ArticleAmerican journal of hematology2010
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.
Article in American journal of hematology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population.Italian journal of pediatrics · 2023Article
- New Cases and Mutations inInternational journal of molecular sciences · 2023Article
- Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.International journal of hematology · 2021Article
- 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.Annals of hematology · 2021Article
- RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway.International journal of molecular sciences · 2020Article
- A Unique Epigenomic Landscape Defines Human Erythropoiesis.Cell reports · 2019Article
- A case report of congenital erythropoietic anemia II in China with a novel mutation.Annals of hematology · 2019Article
- The Functional Role of SEC23 in Vesicle Transportation, Autophagy and Cancer.International journal of biological sciences · 2019Review
- CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia.Frontiers in physiology · 2019Article
- Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Molecular and cellular biology · 2014Article
- Trafficking mechanisms of extracellular matrix macromolecules: insights from vertebrate development and human diseases.The international journal of biochemistry & cell biology · 2014Review
- Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.Haematologica · 2013Article
- Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.Blood cells, molecules & diseases · 2013Article
- Identification of biologically relevant enhancers in human erythroid cells.The Journal of biological chemistry · 2013Article
- Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.Haematologica · 2012Review
- SEC23B is required for the maintenance of murine professional secretory tissues.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- The COPII pathway and hematologic disease.Blood · 2012Review
- Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Orphanet journal of rare diseases · 2011Article
- Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.American journal of hematology · 2011Article
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Abstract
SEC23B gene encodes an essential component of the coat protein complex II (COPII)-coated vesicles. Mutations in this gene cause the vast majority the congenital dyserythropoietic anemia Type II (CDA II), a rare disorder resulting from impaired erythropoiesis. Here, we investigated 28 CDA II patients from 21 unrelated families enrolled in the CDA II International Registry. Overall, we found 19 novel variants [c.2270 A>C p.H757P; c.2149-2 A>G; c.1109+1 G>A; c.387(delG) p.L129LfsX26; c.1858 A>G p.M620V; c.1832 G>C p.R611P; c.1735 T>A p.Y579N; c.1254 T>G p.I418M; c.1015 C>T p.R339X; c.1603 C>T p.R535X; c.1654 C>T p.L552F; c.1307 C>T p.S436L; c.279+3 A>G; c. 2150(delC) p.A717VfsX7; c.1733 T>C p.L578P; c.1109+5 G>A; c.221+31 A>G; c.367 C>T p.R123X; c.1857_1859delCAT; p.I619del] in the homozygous or the compound heterozygous state. Homozygosity or compound heterozygosity for two nonsense mutations was never found. In four cases the sequencing analysis has failed to find two mutations. To discuss the putative functional consequences of missense mutations, computational analysis and sequence alignment were performed. Our data underscore the high allelic heterogeneity of CDA II, as the most of SEC23B variations are inherited as private mutations. In this mutation update, we also provided a tool to improve and facilitate the molecular diagnosis of CDA II by defining the frequency of mutations in each exon.
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