Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene

AbstractCongenital dyserythropoietic anemias (CDA) are disorders characterized by ineffective erythropoiesis and morphological anomalies in erythrocytes and erythroblasts. The purpose of this study is to identify the gene variants in patients diagnosed with CDA. We analyzed five unrelated patients and two siblings with a targeted panel of genes to CDA:CDAN1,CDIN1,SEC23B,KIF23,KLF1, andGATA1 genes. We found three novel variants in theCDIN1 gene (p.Leu136Val, p.Tyr247Cys, and p.Ile273Thr), four known variants in theSEC23B gene (p.Arg14Trp, p.Arg554Ter, p.Asp239Gly, and p.Ser436Leu), and one novel variant in theKIF23 gene (p.Leu945Trpfs*31). Thein silico analysis of novel variants predict that they are pathogenic and, thein vitro study confirms the functional impact of the KIF23 variant on the protein location.

Source: Annals of Hematology - November 7, 2020 Category: Hematology Source Type: research