nach oben

Erschienen in:

07.11.2020 | Original Article

Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene

verfasst von: Manuel Méndez, María Isabel Moreno-Carralero, Valeria L. Peri, Rafael Camacho-Galán, José M. Bosch-Benítez, Jorge Huerta-Aragonés, Jorge Sánchez-Calero-Guilarte, María Belén Moreno-Risco, Juan Manuel Alonso-Domínguez, María José Morán-Jiménez

Erschienen in: Annals of Hematology | Ausgabe 2/2021

Einloggen, um Zugang zu erhalten

Abstract

Congenital dyserythropoietic anemias (CDA) are disorders characterized by ineffective erythropoiesis and morphological anomalies in erythrocytes and erythroblasts. The purpose of this study is to identify the gene variants in patients diagnosed with CDA. We analyzed five unrelated patients and two siblings with a targeted panel of genes to CDA: CDAN1, CDIN1, SEC23B, KIF23, KLF1, and GATA1 genes. We found three novel variants in the CDIN1 gene (p.Leu136Val, p.Tyr247Cys, and p.Ile273Thr), four known variants in the SEC23B gene (p.Arg14Trp, p.Arg554Ter, p.Asp239Gly, and p.Ser436Leu), and one novel variant in the KIF23 gene (p.Leu945Trpfs*31). The in silico analysis of novel variants predict that they are pathogenic and, the in vitro study confirms the functional impact of the KIF23 variant on the protein location.

Gambale A, Iolascon A, Andolfo I, Russo R (2016) Diagnosis and management of congenital dyserythropoietic anemias. Expert Rev Hematol 9(3):283–296PubMed

Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA, Consortium WGS, Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ (2013) Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica 98(9):1383–1387PubMedPubMedCentral

Palmblad J, Sander B, Bain B, Klimkowska M, Bjorck E (2018) Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene. Am J Hematol. 93:E213–E215. https://doi.org/10.1002/ajh.25157CrossRef

Rathe M, Moller MB, Greisen PW, Fisker N (2018) Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a. Pediatr Blood Cancer 65(3). https://doi.org/10.1002/pbc.26866

Russo R, Andolfo I, Manna F, Gambale A, Marra R, Rosato BE, Caforio P, Pinto V, Pignataro P, Radhakrishnan K, Unal S, Tomaiuolo G, Forni GL, Iolascon A (2018) Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. Am J Hematol 93(5):672–682PubMed

Wang Y, Ru Y, Liu G, Dong S, Li Y, Zhu X, Zhang F, Chang YZ, Nie G (2018) Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia. Gene 640:73–78PubMed

Russo R, Marra R, Andolfo I, De Rosa G, Rosato BE, Manna F, Gambale A, Raia M, Unal S, Barella S, Iolascon A (2019) Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein. Front Physiol 10:621PubMedPubMedCentral

Russo R, Gambale A, Langella C, Andolfo I, Unal S, Iolascon A (2014) Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. Am J Hematol 89(10):E169–E175PubMed

Bianchi P, Schwarz K, Hogel J, Fermo E, Vercellati C, Grosse R, van Wijk R, van Zwieten R, Barcellini W, Zanella A, Heimpel H (2016) Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations. Br J Haematol 175(4):696–704PubMed

10.

Sandstrom H, Wahlin A (2000) Congenital dyserythropoietic anemia type III. Haematologica 85(7):753–757PubMed

11.

Accame EA, de Tezanos Pinto M (1981) Congenital dyserythropoiesis with erythroblastic polyploidy. Report of a variety found in Argentinian Mesopotamia (author’s transl). Sangre (Barc) 26(5-A):545–555

12.

Bergstrom I, Jacobsson L (1962) Hereditary benign erythroreticulosis. Blood 19:296–303PubMed

13.

Sandstrom H, Wahlin A, Eriksson M, Bergstrom I (1994) Serum thymidine kinase in congenital dyserythropoietic anaemia type III. Br J Haematol 87(3):653–654PubMed

14.

Sandstrom H, Wahlin A, Eriksson M, Bergstrom I, Wickramasinghe SN (1994) Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III. Eur J Haematol 52(1):42–46PubMed

15.

Sandstrom H, Wahlin A, Eriksson M, Holmgren G, Lind L, Sandgren O (1997) Angioid streaks are part of a familial syndrome of dyserythropoietic anaemia (CDA III). Br J Haematol 98(4):845–849PubMed

16.

Wickramasinghe SN, Parry TE, Williams C, Bond AN, Hughes M, Crook S (1982) A new case of congenital dyserythropoietic anaemia, type III: studies of the cell cycle distribution and ultrastructure of erythroblasts and of nucleic acid synthesis in marrow cells. J Clin Pathol 35(10):1103–1109PubMedPubMedCentral

17.

Wickramasinghe SN, Wahlin A, Anstee D, Parsons SF, Stopps G, Bergstrom I, Eriksson M, Sandstrom H, Shiels S (1993) Observations on two members of the Swedish family with congenital dyserythropoietic anaemia, type III. Eur J Haematol 50(4):213–221PubMed

18.

Wolff JA, Von Hofe FH (1951) Familial erythroid multinuclearity. Blood 6(12):1274–1283PubMed

19.

Byrnes RK, Dhru R, Brady AM, Galen WP, Hopper B (1980) Congenital dyserythropoietic anemia in treated Hodgkin’s disease. Hum Pathol 11(5):485–486PubMed

20.

Carreno-Tarragona G, Trapiello-Valbuena F, Aranda-Salom J, Martinez-Lopez J, Lumbreras C, Oliveira-Ramirez E, Diaz-Pedroche C (2015) Antiphospholipid syndrome in a patient suffering from congenital dyserythropoietic anemia type III. Ann Hematol 94(8):1411–1412PubMed

21.

Choudhry VP, Saraya AK, Kasturi J, Rath PK (1981) Congenital dyserythropoietic anaemias: splenectomy as a mode of therapy. Acta Haematol 66(3):195–201PubMed

22.

Clauvel JP, Cosson A, Breton-Gorius J, Flandrin G, Faille A, Bonnet-Gajdos M, Turpin F, Bernard J (1972) Congenital dyserythropoiesis (study of 6 cases). Nouv Rev Fr Hematol 12(5):653–672PubMed

23.

Goudsmit R, Beckers D, De Bruijne JI, Engelfriet CP, James J, Morselt AF, Reynierse E (1972) Congenital dyserythropoietic anaemia, type 3. Br J Haematol 23(1):97–105PubMed

24.

Krouwels FH, Bresser P, von dem Borne AE (1999) Extramedullary hematopoiesis: breathtaking and hair-raising. N Engl J Med 341(22):1702–1704PubMed

25.

McCluggage WG, Hull D, Mayne E, Bharucha H, Wickramasinghe SN (1996) Malignant lymphoma in congenital dyserythropoietic anaemia type III. J Clin Pathol 49(7):599–602PubMedPubMedCentral

26.

Morales R, Pérez-de-Soto I, Sánchez J, Fernández R, Prats C, De-Blas J, Caballero T, Herrera A, Carrillo E, Calderón C, Bernal R, Martin Noya A, Pérez-Simón JA Anemia diseritropoyética congénita tipo III: nuevo caso esporádico con algunas peculiaridades citomorfológicas. LV Congreso Nacional de la Sociedad Española de Hematología y Hemoterapia Simposios Sevilla, Spain. Octuber 17-19, 2015:209-214

27.

Sigler E, Shaft D, Shtalrid M, Shvidel L, Berrebi A, Resnitzky P (2002) New sporadic case of congenital dyserythropoietic anemia type III in an aged woman: detailed description of ultrastructural findings. Am J Hematol 70(1):72–76PubMed

28.

Lind L, Sandstrom H, Wahlin A, Eriksson M, Nilsson-Sojka B, Sikstrom C, Holmgren G (1995) Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25. Hum Mol Genet 4(1):109–112PubMed

29.

Liljeholm M, Irvine AF, Vikberg AL, Norberg A, Month S, Sandstrom H, Wahlin A, Mishima M, Golovleva I (2013) Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. Blood 121(23):4791–4799PubMed

30.

Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP (2010) A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet 87(5):721–727PubMedPubMedCentral

31.

de-la Iglesia-Inigo S, Moreno-Carralero MI, Lemes-Castellano A, Molero-Labarta T, Mendez M, Moran-Jimenez MJ (2017) A case of congenital dyserythropoietic anemia type IV. Clin Case Rep 5(3):248–252

32.

Jaffray JA, Mitchell WB, Gnanapragasam MN, Seshan SV, Guo X, Westhoff CM, Bieker JJ, Manwani D (2013) Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm. Blood Cells Mol Dis 51(2):71–75PubMedPubMedCentral

33.

Ortolano R, Forouhar M, Warwick A, Harper D (2018) A case of congenital dyserythropoeitic anemia type IV caused by E325K mutation in erythroid transcription factor KLF1. J Pediatr Hematol Oncol 40(6):e389–e391PubMed

34.

Ravindranath Y, Johnson RM, Goyette G, Buck S, Gadgeel M, Gallagher PG (2018) KLF1 E325K-associated congenital dyserythropoietic anemia type IV: insights into the variable clinical severity. J Pediatr Hematol Oncol 40(6):e405–e409PubMedPubMedCentral

35.

Jamwal M, Aggarwal A, Sharma P, Bansal D, Das R (2020) Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys: first report in an Indian infant. Ann Hematol. https://doi.org/10.1007/s00277-020-03982-y

36.

Ahmed MS, Shahjaman M, Kabir E, Kamruzzaman M (2018) Structure modeling to function prediction of uncharacterized human protein C15orf41. Bioinformation 14(5):206–212PubMedPubMedCentral

37.

Aydin Koker S, Karapinar TH, Oymak Y, Bianchi P, Fermo E, Gozmen S, Vergin C (2018) Identification of a novel mutation in the SEC23B gene associated with congenital dyserythropoietic anemia type II through the use of next-generation sequencing panel in an undiagnosed case of nonimmune hereditary hemolytic anemia. J Pediatr Hematol Oncol 40(7):e421–e423PubMed

38.

Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A, Marcello AP, Righetti PG, Zanella A (2009) Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat 30(9):1292–1298PubMed

39.

Iolascon A, Russo R, Esposito MR, Asci R, Piscopo C, Perrotta S, Feneant-Thibault M, Garcon L, Delaunay J (2010) Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. Haematologica 95(5):708–715PubMed

40.

Punzo F, Bertoli-Avella AM, Scianguetta S, Della Ragione F, Casale M, Ronzoni L, Cappellini MD, Forni G, Oostra BA, Perrotta S (2011) Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene. Orphanet J Rare Dis 6:89PubMedPubMedCentral

41.

Russo R, Esposito MR, Asci R, Gambale A, Perrotta S, Ramenghi U, Forni GL, Uygun V, Delaunay J, Iolascon A (2010) Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. Am J Hematol 85(12):915–920PubMedPubMedCentral

42.

Russo R, Gambale A, Esposito MR, Serra ML, Troiano A, De Maggio I, Capasso M, Luzzatto L, Delaunay J, Tamary H, Iolascon A (2011) Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. Am J Hematol 86(9):727–732PubMedPubMedCentral

43.

Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H (2009) Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet 41(8):936–940PubMed

44.

Moreno-Carralero MI, Horta-Herrera S, Morado-Arias M, Ricard-Andres MP, Lemes-Castellano A, Abio-Calvete M, Cedena-Romero MT, Gonzalez-Fernandez FA, Llorente-Gonzalez L, Periago-Peralta AM, de-la-Iglesia-Inigo S, Mendez M, Moran-Jimenez MJ (2018) Clinical and genetic features of congenital dyserythropoietic anemia (CDA). Eur J Haematol 101(3):368–378PubMed

45.

Amir A, Dgany O, Krasnov T, Resnitzky P, Mor-Cohen R, Bennett M, Berrebi A, Tamary H (2011) E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. Acta Haematol 125(4):202–207PubMed

46.

Traxler E, Weiss MJ (2013) Congenital dyserythropoietic anemias: III’s a charm. Blood 121(23):4614–4615PubMedPubMedCentral

47.

Deavours BE, Walker RA (1999) Nuclear localization of C-terminal domains of the kinesin-like protein MKLP-1. Biochem Biophys Res Commun 260(3):605–608PubMed

48.

Liu X, Erikson RL (2007) The nuclear localization signal of mitotic kinesin-like protein Mklp-1: effect on Mklp-1 function during cytokinesis. Biochem Biophys Res Commun 353(4):960–964PubMed

49.

Perez-Jacoiste Asin MA, Ruiz Robles G (2016) Skull erythropoiesis in a patient with congenital dyserythropoietic anaemia. Lancet 387(10020):787PubMed

Titel: Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene
verfasst von: Manuel Méndez
María Isabel Moreno-Carralero
Valeria L. Peri
Rafael Camacho-Galán
José M. Bosch-Benítez
Jorge Huerta-Aragonés
Jorge Sánchez-Calero-Guilarte
María Belén Moreno-Risco
Juan Manuel Alonso-Domínguez
María José Morán-Jiménez
Publikationsdatum: 07.11.2020
Verlag: Springer Berlin Heidelberg
Erschienen in: Annals of Hematology / Ausgabe 2/2021
Print ISSN: 0939-5555
Elektronische ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-020-04319-5

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

25.04.2024 | Hypertonie | Nachrichten

Update Innere Medizin

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

Newsletter bestellen

Springer Medizin

Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene

Abstract

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Metformin rückt in den Hintergrund

Update Innere Medizin

Springer Medizin

Abstract

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

Weitere Artikel der Ausgabe 2/2021

The role of novel agents for consolidation after autologous transplantation in newly diagnosed multiple myeloma: a systematic review

Prognostic value of ASXL1 mutations in patients with primary myelofibrosis and its relationship with clinical features: a meta-analysis

A new parameter in multiple myeloma: CYP3A4*1B single nucleotide polymorphism

Distinct clinical and biological characteristics of acute myeloid leukemia with higher expression of long noncoding RNA KIAA0125

Prenatal diagnosis of familial hemophagocytic lymphohistiocytosis: morphological findings in the product of conception

Hematologic disorders associated with COVID-19: a review

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Metformin rückt in den Hintergrund

Update Innere Medizin