Journal
BLOOD CELLS MOLECULES AND DISEASES
Volume 51, Issue 1, Pages 17-21Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bcmd.2013.02.003
Keywords
CDA II; SEC23B; Hypomorphic mutations; Genotype-phenotype correlation
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Funding
- Italian Ministero dell'Universita e della Ricerca [MUR-PS 35-126/Ind]
- Regione Campania [DGRC2362/07]
- EU [LSHM-CT-2006-037296]
- Italian Telethon Foundation grant [GGP 09044]
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Congenital dyserythropoietic anemia type II, a recessive disorder of erythroid differentiation, is due to mutations in SEC23B, a component of the core trafficking machinery COPII. In no case homozygosity or compound heterozygosity for nonsense mutation(s) was found. This study represents the first description of molecular mechanisms underlying SEC23B hypomorphic genotypes by the analysis of five novel mutations. Our findings suggest that reduction of SEC23B gene expression is not associated with CDA II severe clinical presentation; conversely, the combination of a hypomorphic allele With one functionally altered results in more severe phenotypes. We propose a mechanism of compensation SEC23A-mediated which justifies these observations. (C) 2013 Elsevier Inc. All rights reserved.
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