CDIN1 and congenital dyserythropoietic anemia type 1: In this study, sequencing and segregation analysis of unrelated CDA-I patients identified two different mutations in C15ORF41: a pL178Q substitution altering a highly conserved hydrophobic leucine to a polar glutamine, caused by a T to A transversion in exon 8 of C15ORF41; and a pY94C missense mutation that resulted from A to G transition in exon 5 of C15ORF41. The C15ORF41 gene appears to be widely conserved, having orthologs broadly distributed in reptiles, birds and mammals.