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01.09.2012 | Special Annual Issue

Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification

verfasst von: Camilla Bernardini, Marta Barba, Gianpiero Tamburrini, Luca Massimi, Concezio Di Rocco, Fabrizio Michetti, Wanda Lattanzi

Erschienen in: Child's Nervous System | Ausgabe 9/2012

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Abstract

Introduction

Non-syndromic craniosynostoses (NSC) occur as isolated skull malformations due to the premature ossification of one (single-suture forms) or more (complex forms) calvarial sutures and represent the most frequent form of craniosynostosis worldwide. The etiology of NSC is still largely unknown as a genetic basis can be rarely demonstrated especially in single-suture forms. In these cases, during the prenatal/perinatal development of affected patients, only one suture undergoes a premature direct ossification within an otherwise physiologically grown skull. This could suggest that definite somatic alterations, possibly due to unclear environmental agents, occur locally at the site of premature suture fusion during skull development. A promising tool to investigate the molecular mechanisms that may orchestrate this event is the comparative analysis of suture- and synostosis-derived tissues and cells.

Purpose

This review focuses on the different studies that attempted to clarify this issue using genome-wide microarray-based technologies for the comparative analysis of gene expression profiles. All relevant results have been comprehensively reviewed, possibly compared, and critically discussed.

Conclusion

Due to the heterogeneity of the dataset available in the literature, a univocal CRS-associated molecular profile could not be deciphered. Most differentially expressed genes are found in different studies to be involved in extracellular matrix remodeling.

Cohen MM Jr (1993) Sutural biology and the correlates of craniosynostosis. Am J Med Genet 47(5):581–616PubMedCrossRef

Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'rourke AW, Williams LJ, Seller A, Lester T (2007) Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A 143A(16):1941–1949PubMedCrossRef

Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA (2010) Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics 126(2):e391–400PubMedCrossRef

Ursitti F, Fadda T, Papetti L, Pagnoni M, Nicita F, Iannetti G, Spalice A (2011) Evaluation and management of nonsyndromic craniosynostosis. Acta Paediatr 100(9):1185–1194PubMedCrossRef

Di Rocco C, Velardi F (1988) Nosographic identification and classification of plagiocephaly. Childs Nerv Syst 4(1):9–15PubMed

van der Meulen J, van der Hulst R, van Adrichem L, Arnaud E, Chin-Shong D, Duncan C, Habets E, Hinojosa J, Mathijssen I, May P, Morritt D, Nishikawa H, Noons P, Richardson D, Wall S, van der Vlugt J, Renier D (2009) The increase of metopic synostosis: a pan-European observation. J Craniofac Surg 20(2):283–286PubMedCrossRef

Selber J, Reid RR, Chike-Obi CJ, Sutton LN, Zackai EH, McDonald-McGinn D, Sonnad SS, Whitaker LA, Bartlett SP (2008) The changing epidemiologic spectrum of single-suture synostoses. Plast Reconstr Surg 122(2):527–533PubMedCrossRef

Di Rocco F, Arnaud E, Renier D (2009) Evolution in the frequency of nonsyndromic craniosynostosis. J Neurosurg Pediatr 4(1):21–25PubMedCrossRef

Frydman M, Kauschansky A, Elian E (1984) Trigonocephaly: a new familial syndrome. Am J Med Genet 18(1):55–59PubMedCrossRef

10.

Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D, Renier D (1996) Genetic study of scaphocephaly. Am J Med Genet 62(3):282–285PubMedCrossRef

11.

Lajeunie E, Le Merrer M, Marchac D, Renier D (1998) Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. Am J Med Genet 75(2):211–215PubMedCrossRef

12.

Kress W, Petersen B, Collmann H, Grimm T (2000) An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. Cytogenet Cell Genet 91(1–4):138–140PubMedCrossRef

13.

Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JT, Forrest C, Teebi AS (2003) Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A 117A(2):127–135PubMed

14.

McGillivray G, Savarirayan R, Cox TC, Stojkoski C, McNeil R, Bankier A, Bateman JF, Roscioli T, Gardner RJ, Lamandé SR (2005) Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. J Med Genet 42(8):656–662PubMedCrossRef

15.

Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML (2010) Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet A 152A(9):2203–2210PubMedCrossRef

16.

Graham JM Jr, deSaxe M, Smith DW (1979) Sagittal craniostenosis: fetal head constraint as one possible cause. J Pediatr 95(5 Pt 1):747–750PubMed

17.

Alderman BW, Bradley CM, Greene C, Fernbach SK, Barón AE (1994) Increased risk of craniosynostosis with maternal cigarette smoking during pregnancy. Teratology 50(1):13–18PubMedCrossRef

18.

Gardner JS, Guyard-Boileau B, Alderman BW, Fernbach SK, Greene C, Mangione EJ (1998) Maternal exposure to prescription and non-prescription pharmaceuticals or drugs of abuse and risk of craniosynostosis. Int J Epidemiol 27(1):64–67PubMedCrossRef

19.

Hunenko O, Karmacharya J, Ong G, Kirschner RE (2001) Toward an understanding of nonsyndromic craniosynostosis: altered patterns of TGF-beta receptor and FGF receptor expression induced by intrauterine head constraint. Ann Plast Surg 46(5):546–553PubMedCrossRef

20.

Bradley JP, Shahinian H, Levine JP, Rowe N, Longaker MT (2000) Growth restriction of cranial sutures in the fetal lamb causes deformational changes, not craniosynostosis. Plast Reconstr Surg 105(7):2416–2423PubMedCrossRef

21.

Alderman BW, Zamudio S, Barón AE, Joshua SC, Fernbach SK, Greene C, Mangione EJ (1995) Increased risk of craniosynostosis with higher antenatal maternal altitude. Int J Epidemiol 24(2):420–426PubMedCrossRef

22.

Källén K (1999) Maternal smoking and craniosynostosis. Teratology 60(3):146–150PubMedCrossRef

23.

Carmichael SL, Ma C, Rasmussen SA, Honein MA, Lammer EJ, Shaw GM, National Birth Defects Prevention Study (2008) Craniosynostosis and maternal smoking. Birth Defects Res A Clin Mol Teratol 82(2):78–85PubMedCrossRef

24.

Hackshaw A, Rodeck C, Boniface S (2011) Maternal smoking in pregnancy and birth defects: a systematic review based on 173,687 malformed cases and 11.7 million controls. Hum Reprod Update 17(5):589–604PubMedCrossRef

25.

Fragale A, Tartaglia M, Bernardini S, Di Stasi AM, Di Rocco C, Velardi F, Teti A, Battaglia PA, Migliaccio S (1999) Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders. Am J Pathol 154(5):1465–1477PubMedCrossRef

26.

Morriss-Kay GM, Wilkie AO (2005) Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J Anat 207(5):637–653PubMedCrossRef

27.

de Pollak C, Arnaud E, Renier D, Marie PJ (1997) Age-related changes in bone formation, osteoblastic cell proliferation, and differentiation during postnatal osteogenesis in human calvaria. J Cell Biochem 64(1):128–139PubMedCrossRef

28.

Karsenty G (2003) The complexities of skeletal biology. Nature 423(6937):316–318PubMedCrossRef

29.

Persson M, Magnusson BC, Thilander B (1978) Sutural closure in rabbit and man: a morphological and histochemical study. J Anat 125(Pt 2):313–321PubMed

30.

Cohen MM Jr (1993) Sutural biology and the correlates of craniosynostosis. Am J Med Genet 47(5):581–616PubMedCrossRef

31.

Lana-Elola E, Rice R, Grigoriadis AE, Rice DP (2007) Cell fate specification during calvarial bone and suture development. Dev Biol 311(2):335–346PubMedCrossRef

32.

Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AO, Maxson RE Jr (2006) Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet 15(8):1319–1328PubMedCrossRef

33.

Lattanzi W, Bernardini C (2011) Genes and molecular pathways of the osteogenic process. In: Lin Y(ed) Osteogenesis, InTech, Available at http://www.intechopen.com/books/osteogenesis/genes-and-molecular-pathways-of-the-osteogenic-process

34.

Boden SD, Liu Y, Hair GA, Helms JA, Hu D, Racine M, Nanes MS, Titus L (1998) LMP-1, a LIM-domain protein, mediates BMP-6 effects on bone formation. Endocrinology 139(12):5125–5134PubMedCrossRef

35.

Bernardini C, Saulnier N, Parrilla C, Pola E, Gambotto A, Michetti F, Robbins PD, Lattanzi W (2010) Early transcriptional events during osteogenic differentiation of human bone marrow stromal cells induced by Lim mineralization protein 3. Gene Expr 15(1):27–42PubMedCrossRef

36.

Standring S, Gray H (2008) Gray’s anatomy: the anatomical basis of clinical practice. Churchill Livingstone/Elsevier, Edinburgh

37.

Carinci F, Bodo M, Tosi L, Francioso F, Evangelisti R, Pezzetti F, Scapoli L, Martinelli M, Baroni T, Stabellini G, Carinci P, Bellucci C, Lilli C, Volinia S (2002) Expression profiles of craniosynostosis-derived fibroblasts. Mol Med 8(10):638–644PubMed

38.

Coussens AK, Wilkinson CR, Hughes IP, Morris CP, van Daal A, Anderson PJ, Powell BC (2007) Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis. BMC Genomics 8:458PubMedCrossRef

39.

Fanganiello RD, Sertié AL, Reis EM, Yeh E, Oliveira NA, Bueno DF, Kerkis I, Alonso N, Cavalheiro S, Matsushita H, Freitas R, Verjovski-Almeida S, Passos-Bueno MR (2007) Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Mol Med 13(7–8):422–442PubMed

40.

Coussens AK, Hughes IP, Wilkinson CR, Morris CP, Anderson PJ, Powell BC, van Daal A (2008) Identification of genes differentially expressed by prematurely fused human sutures using a novel in vivo–in vitro approach. Differentiation 76(5):531–545PubMedCrossRef

41.

Bochukova EG, Soneji S, Wall SA, Wilkie AO (2010) Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. J Med Genet 47(12):803–808PubMedCrossRef

42.

Stamper BD, Park SS, Beyer RP, Bammler TK, Farin FM, Mecham B, Cunningham ML (2011) Differential expression of extracellular matrix-mediated pathways in single-suture craniosynostosis. PLoS One 6(10):e26557PubMedCrossRef

43.

Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO (2004) Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A 101(23):8652–8657PubMedCrossRef

44.

Quadro L, Blaner WS, Salchow DJ, Vogel S, Piantedosi R, Gouras P, Freeman S, Cosma MP, Colantuoni V, Gottesman ME (1999) Impaired retinal function and vitamin A availability in mice lacking retinol-binding protein. EMBO J 18:4633–4644PubMedCrossRef

45.

Song HH, Shi W, Xiang YY, Filmus J (2005) The loss of glypican-3 induces alterations in Wnt signaling. J Biol Chem 280:2116–2125PubMedCrossRef

46.

Paine-Saunders S, Viviano BL, Zupicich J, Skarnes WC, Saunders S (2000) glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development. Dev Biol 225:179–187PubMedCrossRef

47.

De Cat B, Muyldermans SY, Coomans C, Degeest G, Vanderschueren B, Creemers J, Biemar F, Peers B, David G (2003) Processing by proprotein convertases is required for glypican-3 modulation of cell survival, Wnt signaling, and gastrulation movements. J Cell Biol 163:625–635PubMedCrossRef

48.

Midorikawa Y, Ishikawa S, Iwanari H, Imamura T, Sakamoto H, Miyazono K, Kodama T, Makuuchi M, Aburatani H (2003) Glypican-3, overexpressed in hepatocellular carcinoma, modulates FGF2 and BMP-7 signaling. Int J Cancer 103:455–465PubMedCrossRef

49.

Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D (1996) Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 12:241–247PubMedCrossRef

50.

Maeda T, Jikko A, Abe M, Yokohama-Tamaki T, Akiyama H, Furukawa S, Takigawa M, Wakisaka S (2006) Cartducin, a paralog of Acrp30/adiponectin, is induced during chondrogenic differentiation and promotes proliferation of chondrogenic precursors and chondrocytes. J Cell Physiol 206:537–544PubMedCrossRef

51.

Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP, McVean GA, Rajpert-De Meyts E, Wilkie AO (2009) Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Nat Genet 41(11):1247–1252PubMedCrossRef

Titel: Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification
verfasst von: Camilla Bernardini
Marta Barba
Gianpiero Tamburrini
Luca Massimi
Concezio Di Rocco
Fabrizio Michetti
Wanda Lattanzi
Publikationsdatum: 01.09.2012
Verlag: Springer-Verlag
Erschienen in: Child's Nervous System / Ausgabe 9/2012
Print ISSN: 0256-7040
Elektronische ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-012-1780-2

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Abstract

Introduction

Purpose

Conclusion

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