Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II
| Autor: | Elizabeth Yang, Concetta Langella, Francesco Vitiello, Roberta Russo, Achille Iolascon, Fara Vallefuoco, Antonella Gambale, Torben Ek, Maria Rosaria Esposito |
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| Přispěvatelé: | Russo, Roberta, Langella, C, Esposito, Mr, Gambale, A, Vitiello, F, Vallefuoco, F, Ek, T, Yang, E, Iolascon, Achille |
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Adult
Male CDA II Congenital dyserythropoietic anemia type II Genotype Nonsense mutation Vesicular Transport Proteins Biology Compound heterozygosity medicine.disease_cause Article Exon medicine Humans Amino Acid Sequence Child Molecular Biology Gene Anemia Dyserythropoietic Congenital Genetics Mutation Polymorphism Genetic Base Sequence Genotype–phenotype correlation Hypomorphic mutations Cell Biology Hematology Exons medicine.disease Phenotype Introns Pedigree Molecular Medicine Female RNA Splice Sites SEC23B |
| Zdroj: | Blood Cells, Molecules & Diseases |
| ISSN: | 1096-0961 1079-9796 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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