nach oben

Endocrine

Erschienen in:

06.05.2022 | Review

Components of IGF-axis in growth disorders: a systematic review and patent landscape report

verfasst von: Amit Singh, Ketan Pajni, Inusha Panigrahi, Navdeep Dhoat, Sabyasachi Senapati, Preeti Khetarpal

Erschienen in: Endocrine | Ausgabe 3/2022

Einloggen, um Zugang zu erhalten

Abstract

Purpose

In this review, epi/genetic mutations of IGF-axis components associated with growth disorders have been summarized alongwith assessment of relevant diagnostic and therapeutic technology through patent literature.

Methodology

PROSPERO protocol registration CRD42021279468. For scientific literature search Literature databases (PubMed, EMBASE, ScienceDirect, and Google Scholar) were queried using the appropriate syntax. Various filters were applied based on inclusion and exclusion criteria. Search results were further refined by two authors for finalizing studies to be included in this synthesis. For patent documents search Patent databases (Patentscope and Espacenet) were queried using keywords: IGF or IGFBP. Filters were applied according to International Patent Classification (IPC) and Cooperative Patent Classification (CPC). Search results were reviewed by two authors for inclusion in the patent landscape report.

Results

For scientific literature analysis, out of 545 search results, 196 were selected for review based on the inclusion criteria. For Patent literature search, out of 485 results, 37 were selected for this synthesis.

Conclusion

Dysregulation of IGF-axis components leads to various abnormalities and their key role in growth and development suggests epi/mutations or structural defects among IGF-axis genes can be associated with growth disorders and may explain some of the idiopathic short stature cases. Trend of patent filings indicate advent of recombinant technology for therapeutics.

Nur mit Berechtigung zugänglich

B. Ergun-Longmire, M.P. Wajnrajch: Growth and Growth Disorders. In: K.R. Feingold, B. Anawalt, A. Boyce, G. Chrousos, W.W. de Herder, K. Dhatariya, K. Dungan, J.M. Hershman, J. Hofland, S. Kalra, G. Kaltsas, C. Koch, P. Kopp, M. Korbonits, C.S. Kovacs, W. Kuohung, B. Laferrère, M. Levy, EA. McGee, R. McLachlan, J.E. Morley, M. New, J. Purnell, R. Sahay, F. Singer, M.A. Sperling, C.A. Stratakis, D.L. Trence, and D.P. Wilson, (eds.) Endotext. MDText.com, Inc., South Dartmouth (MA) (2000).

K. Forbes, M. Westwood, The IGF axis and placental function. Horm. Res. Paediatr. 69, 129–137 (2008). https://doi.org/10.1159/000112585CrossRef

R. Peoples, A. Milatovich, U. Francke, Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome. Cytogenet. Cell Genet. 70, 228–234 (1995). https://doi.org/10.1159/000134040CrossRefPubMed

P. Prontera, L. Micale, A. Verrotti, V. Napolioni, G. Stangoni, G. Merla, A new homozygous IGF1R variant defines a clinically recognizable incomplete dominant form of SHORT syndrome. Hum. Mutat. 36, 1043–1047 (2015). https://doi.org/10.1002/humu.22853CrossRefPubMed

I. Castilla-Cortazar, J.R. de Ita, G.A. Aguirre, F. Castorena-Torres, J. Ortiz-Urbina, M. García-Magariño, R.G. de la Garza, C. Diaz Olachea, M.I. Elizondo Leal, Fanconi anemia and laron syndrome. Am. J. Med. Sci. 353, 425–432 (2017). https://doi.org/10.1016/j.amjms.2017.02.001CrossRefPubMed

Y. Abe, T. Sato, M. Takagi, T. Watanabe, Y. Nagayama, T. Hasegawa, T. Abe, A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. J. Pediatr. Endocrinol. Metab. 25, (2012). https://doi.org/10.1515/jpem-2011-0473.

M. Plamper, B. Gohlke, F. Schreiner, J. Woelfle, Mecasermin in insulin receptor-related severe insulin resistance syndromes: case report and review of the literature. Int. J. Mol. Sci 19, 1268 (2018). https://doi.org/10.3390/ijms19051268CrossRefPubMedCentral

R.K. Junnila, E.O. List, D.E. Berryman, J.W. Murrey, J.J. Kopchick, The GH/IGF-1 axis in ageing and longevity. Nat. Rev. Endocrinol. 9, 366–376 (2013). https://doi.org/10.1038/nrendo.2013.67CrossRefPubMedPubMedCentral

A. Kasprzak, W. Kwasniewski, A. Adamek, A. Gozdzicka-Jozefiak, Insulin-like growth factor (IGF) axis in cancerogenesis. Mutat. Res. Rev. Mutat. Res. 772, 78–104 (2017). https://doi.org/10.1016/j.mrrev.2016.08.007CrossRefPubMed

10.

X.-R. Wang, W.-J. Wang, X. Yu, X. Hua, F. Ouyang, Z.-C. Luo, insulin-like growth factor axis biomarkers and gestational diabetes mellitus: a systematic review and meta-analysis. Front. Endocrinol. 10, 444 (2019). https://doi.org/10.3389/fendo.2019.00444CrossRef

11.

Frequently Asked Questions: Patents, https://www.wipo.int/patents/en/faq_patents.html, last accessed 2021/12/20.

12.

M.O. Savage, Phenotypes, investigation and treatment of primary IGF-1 Deficiency. In: M. Maghnie, S. Loche, M. Cappa, L. Ghizzoni, R. Lorini, (eds.) Endocrine Development. pp. 138–149. S. KARGER AG, Basel (2013). https://doi.org/10.1159/000342578.

13.

D. Rani, R. Shrestha, T. Kanchan, K. Krishan, Short stature. In: StatPearls. StatPearls Publishing, Treasure Island (FL) (2021).

14.

R.E. Slatter, M. Elliott, K. Welham, M. Carrera, P.N. Schofield, D.E. Barton, E.R. Maher, Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J. Med. Genet. 31, 749–753 (1994). https://doi.org/10.1136/jmg.31.10.749CrossRefPubMedPubMedCentral

15.

V.V. Palmieri, A. Lonero, S. Bocchini, G. Cassano, A. Convertino, D. Corica, A. Crinò, V. Fattorusso, S. Ferraris, D. Fintini, A. Franzese, G. Grugni, L. Iughetti, R. Lia, F. Macchi, S.F. Madeo, P. Matarazzo, L. Nosetti, S. Osimani, R. Pajno, G. Patti, M.C. Pellegrin, A. Perri, L. Ragusa, I. Rutigliano, M. Sacco, A. Salvatoni, E. Scarano, S. Stagi, G. Tornese, G. Trifirò, M. Wasniewska, R. Fischetto, P. Giordano, M.R. Licenziati, M. Delvecchio, Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment. Growth Horm. IGF Res. 48–49, 9–15 (2019). https://doi.org/10.1016/j.ghir.2019.08.003CrossRefPubMed

16.

S.E. Stalman, G.A. Kamp, Y.M.C. Hendriks, R.C.M. Hennekam, J. Rotteveel, Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14. Clin. Endocrinol. 83, 671–676 (2015). https://doi.org/10.1111/cen.12841CrossRef

17.

G. Binder, M. Liebl, J. Woelfle, T. Eggermann, G. Blumenstock, R. Schweizer, Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. Horm. Res. Paediatr. 80, 193–200 (2013). https://doi.org/10.1159/000354658CrossRefPubMed

18.

J.S. Fuqua, M. Derr, R.G. Rosenfeld, V. Hwa, Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature. Horm. Res. Paediatr. 78, 59–66 (2012). https://doi.org/10.1159/000337249CrossRefPubMed

19.

K.A. Woods, C. Camacho-Hübner, D. Barter, A.J. Clark, M.O. Savage, Insulin-like growth factor I gene deletion causing intrauterine growth retardation and severe short stature. Acta Paediatr. Oslo Nor. 1992(Suppl. 423), 39–45 (1997). https://doi.org/10.1111/j.1651-2227.1997.tb18367.xCrossRef

20.

T. Wallborn, S. Wüller, J. Klammt, T. Kruis, J. Kratzsch, G. Schmidt, M. Schlicke, E. Müller, H.S. van de Leur, W. Kiess, R. Pfäffle, A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation. J. Clin. Endocrinol. Metab 95, 2316–2324 (2010). https://doi.org/10.1210/jc.2009-2404CrossRefPubMed

21.

D. Le Roith, C. Bondy, S. Yakar, J.L. Liu, A. Butler, The somatomedin hypothesis: 2001. Endocr. Rev 22, 53–74 (2001). https://doi.org/10.1210/edrv.22.1.0419CrossRefPubMed

22.

W. Zhang, N. Maniatis, S. Rodriguez, G.J. Miller, I.N.M. Day, T.R. Gaunt, A. Collins, N.E. Morton, Refined association mapping for a quantitative trait: weight in the H19-IGF2-INS-TH region. Ann. Hum. Genet. 70, 848–856 (2006). https://doi.org/10.1111/j.1469-1809.2006.00290.xCrossRefPubMed

23.

M.F. Faienza, N. Santoro, R. Lauciello, R. Calabrò, L. Giordani, G. Di Salvo, A. Ventura, M. Delvecchio, L. Perrone, E.M. Del Giudice, L. Cavallo, IGF2 gene variants and risk of hypertension in obese children and adolescents. Pediatr. Res. 67, 340–344 (2010). https://doi.org/10.1203/PDR.0b013e3181d22757CrossRefPubMed

24.

A. Grimberg, P. Cohen, Role of insulin-like growth factors and their binding proteins in growth control and carcinogenesis. J. Cell. Physiol. 183, 1–9 (2000). https://doi.org/10.1002/(SICI)1097-4652(200004)183:13.0.CO;2-JCrossRefPubMedPubMedCentral

25.

K. Wang, H. Shen, P. Gan, S. Cavallero, S.R. Kumar, C.-L. Lien, H.M. Sucov, Differential roles of insulin like growth factor 1 receptor and insulin receptor during embryonic heart development. BMC Dev. Biol. 19, 5 (2019). https://doi.org/10.1186/s12861-019-0186-8CrossRefPubMedPubMedCentral

26.

M.J. Ellis, B.A. Leav, Z. Yang, A. Rasmussen, A. Pearce, J.A. Zweibel, M.E. Lippman, K.J. Cullen, Affinity for the insulin-like growth factor-II (IGF-II) receptor inhibits autocrine IGF-II activity in MCF-7 breast cancer cells. Mol. Endocrinol. Baltim. Md 10, 286–297 (1996). https://doi.org/10.1210/mend.10.3.8833657CrossRef

27.

S.M. Twigg, R.C. Baxter, Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit. J. Biol. Chem. 273, 6074–6079 (1998). https://doi.org/10.1074/jbc.273.11.6074CrossRefPubMed

28.

R.C. Bunn, J.L. Fowlkes, Insulin-like growth factor binding protein proteolysis. Trends Endocrinol. Metab. TEM 14, 176–181 (2003). https://doi.org/10.1016/s1043-2760(03)00049-3CrossRefPubMed

29.

L.A. Bach, Insulin-like growth factor binding proteins—an update. Pediatr. Endocrinol. Rev. PER 13, 521–530 (2015)PubMed

30.

G. Bonapace, D. Concolino, S. Formicola, P. Strisciuglio, A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. J. Med. Genet. 40, 913 (2003). https://doi.org/10.1136/jmg.40.12.913CrossRefPubMedPubMedCentral

31.

L. Batey, J.E. Moon, Y. Yu, B. Wu, J.N. Hirschhorn, Y. Shen, A. Dauber, A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency. J. Clin. Endocrinol. Metab 99, E153–E159 (2014). https://doi.org/10.1210/jc.2013-3106CrossRefPubMed

32.

W. Staels, N. Alev, I. Maystadt, O. Chivu, J. De Schepper, C. Heinrichs, D. Beckers, IGF1 haploinsufficiency in children with short stature: a case series. Eur. J. Endocrinol 185, 323–332 (2021). https://doi.org/10.1530/EJE-20-1463CrossRefPubMed

33.

I. Netchine, S. Azzi, M. Houang, D. Seurin, L. Perin, J.-M. Ricort, C. Daubas, C. Legay, J. Mester, R. Herich, F. Godeau, Y. Le Bouc, Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development. J. Clin. Endocrinol. Metab 94, 3913–3921 (2009). https://doi.org/10.1210/jc.2009-0452CrossRefPubMed

34.

K.A. Woods, C. Camacho-Hübner, M.O. Savage, A.J. Clark, Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N. Engl. J. Med. 335, 1363–1367 (1996). https://doi.org/10.1056/NEJM199610313351805CrossRefPubMed

35.

A.C. Keselman, A. Martin, P.A. Scaglia, N.M. Sanguineti, R. Armando, M. Gutiérrez, D. Braslavsky, M.G. Ballerini, M.G. Ropelato, L. Ramirez, E. Landi, S. Domené, J.F. Castro, H. Cassinelli, B. Casali, G. Rey, Á.C. del, Barros, J.N. Blanco, H. Domené, H. Jasper, C. Arberas, R.A. Rey, P. Lapunzina-Badía, I. Bergadá, P.A. Pennisi, A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency. Eur. J. Endocrinol 181, K43–K53 (2019). https://doi.org/10.1530/EJE-19-0563CrossRefPubMed

36.

A. De Crescenzo, F. Coppola, P. Falco, I. Bernardo, G. Ausanio, F. Cerrato, L. Falco, A. Riccio, A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndrome. Eur. J. Med. Genet. 54, e451–e454 (2011). https://doi.org/10.1016/j.ejmg.2011.04.009CrossRefPubMedPubMedCentral

37.

D. Jurkiewicz, M. Kugaudo, A. Skórka, R. Śmigiel, M. Smyk, E. Ciara, K. Chrzanowska, M. Krajewska-Walasek, A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family. Am. J. Med. Genet. A. 173, 72–78 (2017). https://doi.org/10.1002/ajmg.a.37964CrossRefPubMed

38.

K. Grønskov, R.L. Poole, J.M.D. Hahnemann, J. Thomson, Z. Tümer, K. Brøndum-Nielsen, R. Murphy, K. Ravn, L. Melchior, A. Dedic, B. Dolmer, I.K. Temple, S.E. Boonen, D.J.G. Mackay, Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. J. Med. Genet. 48, 308–311 (2011). https://doi.org/10.1136/jmg.2010.086504CrossRefPubMed

39.

A. Riess, G. Binder, J. Ziegler, M. Begemann, L. Soellner, T. Eggermann, First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation. Eur. J. Med. Genet. 59, 1–4 (2016). https://doi.org/10.1016/j.ejmg.2015.12.003CrossRefPubMed

40.

R. Murphy, L. Ibáñez, A. Hattersley, J. Tost, IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance. BMC Med. Genet. 13, 42 (2012). https://doi.org/10.1186/1471-2350-13-42CrossRefPubMedPubMedCentral

41.

C. Poulton, D. Azmanov, V. Atkinson, J. Beilby, L. Ewans, D. Gration, L. Dreyer, V. Shetty, C. Peake, E. McCormack, R. Palmer, B. Lewis, H. Dawkins, S. Broley, G. Baynam, Silver Russel syndrome in an aboriginal patient from Australia. Am. J. Med. Genet. A. 176, 2561–2563 (2018). https://doi.org/10.1002/ajmg.a.40502CrossRefPubMed

42.

R.L. Poole, D.J. Leith, L.E. Docherty, M.E. Shmela, C. Gicquel, M. Splitt, I.K. Temple, D.J.G. Mackay, Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. Eur. J. Hum. Genet. 20, 240–243 (2012). https://doi.org/10.1038/ejhg.2011.166CrossRefPubMed

43.

D. Rockstroh, H. Pfäffle, D.L. Duc, F. Rößler, F. Schlensog-Schuster, J.T. Heiker, J. Kratzsch, W. Kiess, J.R. Lemke, R.A. Jamra, R. Pfäffle, A new p.(Ile66Serfs*93) IGF2 variant is associated with pre- and postnatal growth retardation. Eur. J. Endocrinol 180, K1–K13 (2019). https://doi.org/10.1530/EJE-18-0601CrossRefPubMed

44.

M. Begemann, B. Zirn, G. Santen, E. Wirthgen, L. Soellner, H.-M. Büttel, R. Schweizer, W. van Workum, G. Binder, T. Eggermann, Paternally Inherited IGF2 Mutation and Growth Restriction. N. Engl. J. Med 373, 349–356 (2015). https://doi.org/10.1056/NEJMoa1415227CrossRefPubMed

45.

E. Göpel, D. Rockstroh, H. Pfäffle, M. Schlicke, S.B.-D. Pozza, M.-H. Gannagé-Yared, Z. Gucev, A. Mohn, E.-M. Harmel, J. Volkmann, S. Weihrauch-Blüher, R. Gausche, H. Bogatsch, C. Beger, J. Klammt, R. Pfäffle, A comprehensive cohort analysis comparing growth and GH therapy response in IGF1R mutation carriers and SGA children. J. Clin. Endocrinol. Metab 105, e1705–e1717 (2020). https://doi.org/10.1210/clinem/dgz165CrossRef

46.

P. Ocaranza, M. Losekoot, M.J.E. Walenkamp, C. De Bruin, J.M. Wit, V. Mericq, Intrauterine twin discordancy and partial postnatal catch-up growth in a girl with a pathogenic IGF1R mutation. J. Clin. Res. Pediatr. Endocrinol 11, 293–300 (2019). https://doi.org/10.4274/jcrpe.galenos.2019.2018.0236CrossRefPubMedPubMedCentral

47.

T. Kruis, J. Klammt, A. Galli-Tsinopoulou, T. Wallborn, M. Schlicke, E. Müller, J. Kratzsch, A. Körner, R. Odeh, W. Kiess, R. Pfäffle, Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation. J. Clin. Endocrinol. Metab 95, 1137–1142 (2010). https://doi.org/10.1210/jc.2009-1433CrossRefPubMed

48.

M.-H. Gannagé-Yared, J. Klammt, E. Chouery, S. Corbani, H. Mégarbané, J. Abou Ghoch, N. Choucair, R. Pfäffle, A. Mégarbané, Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations. Eur. J. Endocrinol 168, K1–K7 (2013). https://doi.org/10.1530/EJE-12-0701CrossRefPubMed

49.

M. Fujimoto, Y. Kawashima Sonoyama, N. Hamajima, T. Hamajima, Y. Kumura, N. Miyahara, R. Nishimura, K. Adachi, E. Nanba, K. Hanaki, S. Kanzaki, Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature. Clin. Endocrinol. 83, 834–841 (2015). https://doi.org/10.1111/cen.12791CrossRef

50.

Y. Yang, H. Huang, K. Chen, L. Yang, L. Xie, T. Xiong, X. Wu, Novel mutation of type-1 insulin-like growth factor receptor (IGF-1R) gene in a severe short stature pedigree identified by targeted next-generation sequencing. J. Genet. 98, 16 (2019). https://doi.org/10.1007/s12041-019-1067-4CrossRefPubMed

51.

C. Cabrera-Salcedo, C.P. Hawkes, L. Tyzinski, M. Andrew, G. Labilloy, D. Campos, A. Feld, A. Deodati, V. Hwa, J.N. Hirschhorn, A. Grimberg, A. Dauber, the Genomics Research and Innovation Network: Targeted searches of the electronic health record and genomics identify an etiology in three patients with short stature and high IGF-I levels. Horm. Res. Paediatr. 92, 186–195 (2019). https://doi.org/10.1159/000504884CrossRefPubMed

52.

M.J. Abuzzahab, A. Schneider, A. Goddard, F. Grigorescu, C. Lautier, E. Keller, W. Kiess, J. Klammt, J. Kratzsch, D. Osgood, R. Pfäffle, K. Raile, B. Seidel, R.J. Smith, S.D. Chernausek, IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation, https://www.nejm.org/doi/10.1056/NEJMoa010107, last accessed 2021/10/08.

53.

T. Nagai, O. Shimokawa, N. Harada, S. Sakazume, H. Ohashi, N. Matsumoto, K. Obata, A. Yoshino, N. Murakami, T. Murai, R. Sakuta, N. Niikawa, Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R? Am. J. Med. Genet. 113, 173–177 (2002). https://doi.org/10.1002/ajmg.10717CrossRefPubMed

54.

A. Mohn, M.L. Marcovecchio, T. de Giorgis, R. Pfaeffle, F. Chiarelli, W. Kiess, An insulin-like growth factor-I receptor defect associated with short stature and impaired carbohydrate homeostasis in an Italian pedigree. Horm. Res. Paediatr. 76, 136–143 (2011). https://doi.org/10.1159/000324957CrossRefPubMed

55.

P. Ocaranza, M.C. Golekoh, S.F. Andrew, M.H. Guo, P. Kaplowitz, H. Saal, R.G. Rosenfeld, A. Dauber, F. Cassorla, P.F. Backeljauw, V. Hwa, Expanding genetic and functional diagnoses of IGF1R haploinsufficiencies. Horm. Res. Paediatr. 87, 412–422 (2017). https://doi.org/10.1159/000464143CrossRefPubMed

56.

L. de Lacerda, J.A. Carvalho, B. Stannard, H. Werner, M.C. Boguszewski, R. Sandrini, S.N. Malozowski, D. Leroith, L.E. Underwood, In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene. Clin. Endocrinol. 51, 541–550 (1999). https://doi.org/10.1046/j.1365-2265.1999.00799.xCrossRef

57.

L. Yang, D.-D. Xu, C.-J. Sun, J. Wu, H.-Y. Wei, Y. Liu, M.-Y. Zhang, F.-H. Luo, IGF1R variants in patients with growth impairment: four novel variants and genotype-phenotype correlations. J. Clin. Endocrinol. Metab 103, 3939–3944 (2018). https://doi.org/10.1210/jc.2017-02782CrossRefPubMed

58.

S. Burkhardt, J. Gesing, T.M. Kapellen, P. Kovacs, J. Kratzsch, M. Schlicke, H. Stobbe, A. Tönjes, J. Klammt, R. Pfäffle, Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance. J. Pediatr. Endocrinol. Metab. JPEM 28, 217–225 (2015). https://doi.org/10.1515/jpem-2014-0132CrossRefPubMed

59.

P. Fang, Y. Hi Cho, M.A. Derr, R.G. Rosenfeld, V. Hwa, C.T. Cowell, Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R). J. Clin. Endocrinol. Metab. 97, E243–E247 (2012). https://doi.org/10.1210/jc.2011-2142CrossRefPubMed

60.

D.C.M. Veenma, H.J. Eussen, L.C.P. Govaerts, S.W.K. de Kort, R.J. Odink, C.H. Wouters, A.C.S. Hokken-Koelega, A. de Klein, Phenotype-genotype correlation in a familial IGF1R microdeletion case. J. Med. Genet. 47, 492–498 (2010). https://doi.org/10.1136/jmg.2009.070730CrossRefPubMed

61.

E.-M. Harmel, G. Binder, A. Barnikol-Oettler, J. Caliebe, W. Kiess, M. Losekoot, M.B. Ranke, G.A. Rappold, M. Schlicke, H. Stobbe, J.M. Wit, R. Pfäffle, J. Klammt, Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature. Horm. Res. Paediatr. 80, 431–442 (2013). https://doi.org/10.1159/000355410CrossRefPubMed

62.

L. Faivre, T. Rousseau, N. Laurent, P. Gosset, D. Sanlaville, C. Thauvin-Robinet, V. Cusin, S. Lionnais, P. Callier, P. Khau Van Kien, F. Huet, C. Turleau, P. Sagot, F. Mugneret, Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene. Prenat. Diagn. 24, 393–395 (2004). https://doi.org/10.1002/pd.891CrossRefPubMed

63.

Y. Kawashima, F. Hakuno, S. Okada, T. Hotsubo, T. Kinoshita, M. Fujimoto, R. Nishimura, T. Fukushima, K. Hanaki, S.-I. Takahashi, S. Kanzaki, Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation. Clin. Endocrinol. 81, 312–314 (2014). https://doi.org/10.1111/cen.12317CrossRef

64.

T. Tamura, T. Tohma, T. Ohta, H. Soejima, N. Harada, K. Abe, N. Niikawa, Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. Clin. Dysmorphol. 2, 106–113 (1993)CrossRef

65.

Z. Tümer, T.L. Harboe, E. Blennow, V.M. Kalscheuer, N. Tommerup, K. Brøndum-Nielsen, Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am. J. Med. Genet. A. 130A, 340–344 (2004). https://doi.org/10.1002/ajmg.a.30035CrossRefPubMed

66.

S. Chanprasert, J.L. Smith, P. Hixson, A. Patel, S.R. Lalani, Heterozygous deletion of exons 18 and 19 of IGF1R in an individual with short stature. Clin. Dysmorphol. 23, 98–100 (2014). https://doi.org/10.1097/MCD.0000000000000032CrossRefPubMed

67.

S. Dateki, M. Fukami, Y. Tanaka, G. Sasaki, H. Moriuchi, T. Ogata, Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis. Endocr. J 58, 155–159 (2011). https://doi.org/10.1507/endocrj.k10e-251CrossRefPubMed

68.

R. Mahmoud, A. Naidu, H. Risheg, V. Kimonis, Response to growth hormone treatment in a patient with insulin-like growth factor 1 receptor deletion. J. Clin. Res. Pediatr. Endocrinol 9, 380–386 (2017). https://doi.org/10.4274/jcrpe.4456CrossRefPubMedPubMedCentral

69.

M. Poot, M.J. Eleveld, R. van’t Slot, M.M. van Genderen, A.A. Verrijn Stuart, R. Hochstenbach, F.A. Beemer, Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2–>qter. Eur. J. Med. Genet 50, 432–440 (2007). https://doi.org/10.1016/j.ejmg.2007.08.003CrossRefPubMed

70.

W.A. Ester, H.A. van Duyvenvoorde, C.C. de Wit, A.J. Broekman, C.A.L. Ruivenkamp, L.C.P. Govaerts, J.M. Wit, A.C.S. Hokken-Koelega, M. Losekoot, Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype. J. Clin. Endocrinol. Metab. 94, 4717–4727 (2009). https://doi.org/10.1210/jc.2008-1502CrossRefPubMed

71.

M.J.E. Walenkamp, S.M.P.F. de Muinck Keizer-Schrama, M. de Mos, M.E. Kalf, H.A. van Duyvenvoorde, A.M. Boot, S.G. Kant, S.J. White, M. Losekoot, J.T. Den Dunnen, M. Karperien, J.M. Wit, Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification. J. Clin. Endocrinol. Metab. 93, 2421–2425 (2008). https://doi.org/10.1210/jc.2007-1789CrossRefPubMed

72.

J.S. Yoon, I.T. Hwang, Microdeletion in the IGF-1 receptor gene of a patient with short stature and obesity: a case report. J. Pediatr. Endocrinol. Metab. 34, 255–259 (2021). https://doi.org/10.1515/jpem-2020-0478CrossRefPubMed

73.

P. Fang, I.D. Schwartz, B.D. Johnson, M.A. Derr, C.T. Roberts, V. Hwa, R.G. Rosenfeld, Familial short stature caused by haploinsufficiency of the insulin-like growth factor I receptor due to nonsense-mediated messenger ribonucleic acid decay. J. Clin. Endocrinol. Metab. 94, 1740–1747 (2009). https://doi.org/10.1210/jc.2008-1903CrossRefPubMed

74.

J.I. Labarta, E. Barrio, L. Audí, M. Fernández-Cancio, P. Andaluz, A. de Arriba, B. Puga, M.T. Calvo, E. Mayayo, A. Carrascosa, A. Ferrández-Longás, Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene. Clin. Endocrinol. 78, 255–262 (2013). https://doi.org/10.1111/j.1365-2265.2012.04481.xCrossRef

75.

Ş. Poyrazoğlu, V. Hwa, F. Baş, A. Dauber, R. Rosenfeld, F. Darendeliler, A. Novel Homozygous, Mutation of the acid-labile subunit (IGFALS) gene in a male adolescent. J. Clin. Res. Pediatr. Endocrinol 11, 432 (2019). https://doi.org/10.4274/jcrpe.galenos.2019.2018.0301CrossRefPubMedPubMedCentral

76.

H.A. van Duyvenvoorde, M.J.E. Kempers, T.B. Twickler, J. van Doorn, W.J. Gerver, C. Noordam, M. Losekoot, M. Karperien, J.M. Wit, A.R.M.M. Hermus, Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit. Eur. J. Endocrinol. 159, 113–120 (2008). https://doi.org/10.1530/EJE-08-0081CrossRefPubMed

77.

V. Hwa, G. Haeusler, K.L. Pratt, B.M. Little, H. Frisch, D. Koller, R.G. Rosenfeld, Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure. J. Clin. Endocrinol. Metab. 91, 1826–1831 (2006). https://doi.org/10.1210/jc.2005-2842CrossRefPubMed

78.

A. Grandone, E. Miraglia del Giudice, G. Cirillo, C. Abbondanza, M. Cioffi, T. Romano, F. Micillo, P. Marzuillo, L. Perrone, Clinical features of a new acid-labile subunit (IGFALS) heterozygous mutation: anthropometric and biochemical characterization and response to growth hormone administration. Horm. Res. Paediatr. 81, 67–72 (2014). https://doi.org/10.1159/000355017CrossRefPubMed

79.

H.L. Storr, R. Prasad, I.K. Temple, L.A. Metherell, M.O. Savage, J.M. Walker, Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency. J. Endocrinol. Investig. 38, 407–412 (2015). https://doi.org/10.1007/s40618-014-0195-1CrossRef

80.

A. David, S.J. Rose, F. Miraki-Moud, L.A. Metherell, M.O. Savage, A.J.L. Clark, C. Camacho-Hübner, Acid-labile subunit deficiency and growth failure: description of two novel cases. Horm. Res. Pædiatr. 73, 328–334 (2010). https://doi.org/10.1159/000308164CrossRefPubMedPubMedCentral

81.

O.V. Fofanova-Gambetti, V. Hwa, S. Kirsch, C. Pihoker, H.K. Chiu, W. Högler, L.E. Cohen, C. Jacobsen, M.A. Derr, R.G. Rosenfeld, Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. Horm. Res. 71, (2009). https://doi.org/10.1159/000183899.

82.

O. Hess, M. Khayat, V. Hwa, K.E. Heath, A. Teitler, Y. Hritan, S. Allon-Shalev, Y. Tenenbaum-Rakover, A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). Clin. Endocrinol. 79, 838–844 (2013). https://doi.org/10.1111/cen.12200CrossRef

83.

G. Dominguez-Menéndez, H. Poggi Mayorga, M. Arancibia, F. Benavides, A. Martinez-Aguayo, ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS. Growth Horm IGF Res. 48–49, 5–8 (2019). https://doi.org/10.1016/j.ghir.2019.07.002CrossRefPubMed

84.

C.A. Joyce, A. Sharp, J.M. Walker, H. Bullman, I.K. Temple, Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum. Genet. 105, 273–280 (1999). https://doi.org/10.1007/s004390051101CrossRefPubMed

85.

M. de Kerdanet, M. Caron-Debarle, S. Nivot, T. Gaillot, O. Lascols, B. Fremont, M. Bonaure, S. Gie, C. Massart, J. Capeau, Ten-year improvement of insulin resistance and growth with recombinant human insulin-like growth factor 1 in a patient with insulin receptor mutations resulting in leprechaunism. Diabetes Metab. 41, 331–337 (2015). https://doi.org/10.1016/j.diabet.2014.11.001CrossRefPubMed

86.

D.R. Weber, D.E. Stanescu, R. Semple, C. Holland, S.N. Magge, Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome. J. Pediatr. Endocrinol. Metab. JPEM 27, 1237–1241 (2014). https://doi.org/10.1515/jpem-2013-0402CrossRefPubMed

87.

N. Longo, S.D. Langley, L.D. Griffin, L.J. Elsas, Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance. Am. J. Hum. Genet. 50, 998–1007 (1992)PubMedPubMedCentral

88.

N. Jospe, P.B. Kaplowitz, R.W. Furlanetto, Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor. Clin. Endocrinol. 45, 229–235 (1996). https://doi.org/10.1046/j.1365-2265.1996.d01-1548.xCrossRef

89.

T. Hovnik, N. Bratanič, K.T. Podkrajšek, J. Kovač, D. Paro, T. Podnar, N. Bratina, T. Battelino, Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation. Eur. J. Pediatr. 172, (2013). https://doi.org/10.1007/s00431-012-1901-7.

90.

Y. Nijim, Y. Awni, A. Adawi, A. Bowirrat, Classic case report of Donohue syndrome (Leprechaunism; OMIM ∗246200). Medicine 95, e2710 (2016). https://doi.org/10.1097/MD.0000000000002710CrossRefPubMedPubMedCentral

91.

Y. Takahashi, H. Kadowaki, K. Momomura, Y. Fukushima, T. Orban, T. Okai, Y. Taketani, Y. Akanuma, Y. Yazaki, T. Kadowaki, A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism. Diabetologia 40, 412–420 (1997). https://doi.org/10.1007/s001250050695CrossRefPubMed

92.

Y. Kawashima, R. Nishimura, A. Utsunomiya, R. Kagawa, H. Funata, M. Fujimoto, K. Hanaki, S. Kanzaki, Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene. Endocr. J. 60, 107–112 (2013). https://doi.org/10.1507/endocrj.ej12-0289CrossRefPubMed

Titel: Components of IGF-axis in growth disorders: a systematic review and patent landscape report
verfasst von: Amit Singh
Ketan Pajni
Inusha Panigrahi
Navdeep Dhoat
Sabyasachi Senapati
Preeti Khetarpal
Publikationsdatum: 06.05.2022
Verlag: Springer US
Erschienen in: Endocrine / Ausgabe 3/2022
Print ISSN: 1355-008X
Elektronische ISSN: 1559-0100
DOI: https://doi.org/10.1007/s12020-022-03063-2

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Innere Medizin

Battle of Experts: Sport vs. Spritze bei Adipositas und Typ-2-Diabetes

11.05.2024 DDG-Jahrestagung 2024 Kongressbericht

Im Battle of Experts traten zwei Experten auf dem Diabeteskongress gegeneinander an: Die eine vertrat die Auffassung „Sport statt Spritze“ bei Adipositas und Typ-2-Diabetes, der andere forderte „Spritze statt Sport!“ Am Ende waren sie sich aber einig: Die Kombination aus beidem erzielt die besten Ergebnisse.

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Klimawandel und Gesundheit: Was Sie in der Hausarztpraxis wissen müssen und tun können

Springer Medizin

Components of IGF-axis in growth disorders: a systematic review and patent landscape report

Abstract

Purpose

Methodology

Results

Conclusion

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Battle of Experts: Sport vs. Spritze bei Adipositas und Typ-2-Diabetes

Triglyzeridsenker schützt nicht nur Hochrisikopatienten

Gibt es eine Wende bei den bioresorbierbaren Gefäßstützen?

Vorsicht, erhöhte Blutungsgefahr nach PCI!

Update Innere Medizin

Klimawandel und Gesundheit: Was Sie in der Hausarztpraxis wissen müssen und tun können

Springer Medizin

Abstract

Purpose

Methodology

Results

Conclusion

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2022

Prognostic significance of laterality in lung neuroendocrine tumors

The relationship between computed tomography appearance of pulmonary tuberculosis and blood glucose levels in 763 diabetes mellitus patients with pulmonary tuberculosis: a comparative study

Effect of thyroid function on pre-β1 high-density lipoprotein levels in patients with Graves’ disease undergoing radioiodine treatment

Clinical application of a 5G-based telerobotic ultrasound system for thyroid examination on a rural island: a prospective study

miR-25 and miR-92b regulate insulin biosynthesis and pancreatic β-cell apoptosis

Correlation of mismatch repair deficiency with clinicopathological features and programmed death-ligand 1 expression in thyroid carcinoma

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Battle of Experts: Sport vs. Spritze bei Adipositas und Typ-2-Diabetes

Triglyzeridsenker schützt nicht nur Hochrisikopatienten

Gibt es eine Wende bei den bioresorbierbaren Gefäßstützen?

Vorsicht, erhöhte Blutungsgefahr nach PCI!

Update Innere Medizin