title: Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.
abstract: 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.
authors: Department of Molecular Medicine and Medical Biotechnologies, University Federico II of Naples, Naples, Italy.
authors: Roberta
authors: R
authors: Russo
authors: Concetta
authors: C
authors: Langella
authors: Maria Rosaria
authors: MR
authors: Esposito
authors: Antonella
authors: A
authors: Gambale
authors: Francesco
authors: F
authors: Vitiello
authors: Fara
authors: F
authors: Vallefuoco
authors: Torben
authors: T
authors: Ek
authors: Elizabeth
authors: E
authors: Yang
authors: Achille
authors: A
authors: Iolascon
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics* / Q000378:metabolism*; D001483:Base Sequence; D002648:Child; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D022821:RNA Splice Sites; D033921:Vesicular Transport Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D022821:RNA Splice Sites; C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins