Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

doi:10.1038/ng.405

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Article

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

Nature genetics - 1 Aug 2009

Schwarz Klaus, Iolascon Achille, Verissimo Fatima, Trede Nikolaus S, Horsley Wyatt, Chen Wen, Paw Barry H, Hopfner Karl-Peter, Holzmann Karlheinz, Russo Roberta, Esposito Maria Rosaria, Spano Daniela, De Falco Luigia, Heinrich Katja, Joggerst Brigitte, Rojewski Markus T, Perrotta Silverio, Denecke Jonas, Pannicke Ulrich, Delaunay Jean, Pepperkok Rainer, Heimpel Hermann

Abstract excerpt

Congenital dyserythropoietic anemias (CDAs) are phenotypically and genotypically heterogeneous diseases. CDA type II (CDAII) is the most frequent CDA. It is characterized by ineffective erythropoiesis and by the presence of bi- and multinucleated erythroblasts in bone marrow, with nuclei of equal size and DNA content, suggesting a cytokinesis disturbance. Other features of the peripheral red blood cells are...

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PMID: 19561605
DOI: 10.1038/ng.405

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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.PMID 19561605Read ↗

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Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.Semantic proximity Read ↗

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.Semantic proximity Read ↗

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Semantic proximity Read ↗

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.Semantic proximity Read ↗

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Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature.Semantic proximity Read ↗

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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.Semantic proximity Read ↗

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.Semantic proximity Read ↗

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