Congenital Dyserythropoietic Anemia type II (CDAII) is caused by mutations in the SEC23B gene

Paola Bianchi, Elisa Fermo, Cristina Vercellati, Carla Boschetti, Wilma Barcellini, Alessandra Iurlo, Anna Paola Marcello, Pier Giorgio Righetti, Alberto Zanella

Research output: Contribution to journalArticle

Abstract

Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease characterized by ineffective erythropoiesis, hemolysis, erythroblast morphological abnormalities, and hypoglycosylation of some red blood cell (RBC) membrane proteins. Recent studies indicated that CDAII is caused by a defect disturbing Golgi processing in erythroblasts. A linkage analysis located a candidate region on chromosome 20, termed the CDAN2 locus, in the majority of CDAII patients but the aberrant gene has not so far been elucidated. We used a proteomic-genomic approach to identify SEC23B as the candidate gene for CDAII by matching the recently published data on the cytoplasmic proteome of human RBCs with the chromosomic localization of CDAN2 locus. Sequencing analysis of SEC23B gene in 13 CDAII patients from 10 families revealed 12 different mutations: six missense (c.40CA, c.1043A>C, c.1489C>T, c.1808C>T, and c.2101C

Original languageEnglish
Pages (from-to)1292-1298
Number of pages7
JournalHuman Mutation
Volume30
Issue number9
DOIs
Publication statusPublished - Sep 2009

Keywords

  • CDAII
  • CDAN2
  • Congenital dyserythropoietic anemia
  • SEC23B

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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