A novel homozygous C15ORF41 variant (c.251T > A; p.Val84Glu) causing congenital dyserythropoietic anemia type Ib in an Indian patient: molecular and structural evidence.

Abstract excerpt

BACKGROUND: Congenital dyserythropoietic anaemia type I (CDA-I) is a rare inherited bone marrow failure syndrome characterized by ineffective erythropoiesis and distinct morphological abnormalities of erythroblasts. CDA-I is primarily caused by biallelic pathogenic variants in CDAN1, while mutations in C15ORF41 account for a much rarer subtype, classified as CDA-Ib. Reports of C15ORF41-associated CDA-I from the...

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