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Case Reports
. 2021 Feb;100(2):353-364.
doi: 10.1007/s00277-020-04319-5. Epub 2020 Nov 7.

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

Manuel Méndez  1 , María Isabel Moreno-Carralero  1 , Valeria L Peri  2 , Rafael Camacho-Galán  3 , José M Bosch-Benítez  2 , Jorge Huerta-Aragonés  4 , Jorge Sánchez-Calero-Guilarte  5 , María Belén Moreno-Risco  6 , Juan Manuel Alonso-Domínguez  7 , María José Morán-Jiménez  8
Affiliations
Case Reports

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

Manuel Méndez et al. Ann Hematol. 2021 Feb.

Abstract

Congenital 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, and GATA1 genes. We found three novel variants in the CDIN1 gene (p.Leu136Val, p.Tyr247Cys, and p.Ile273Thr), four known variants in the SEC23B gene (p.Arg14Trp, p.Arg554Ter, p.Asp239Gly, and p.Ser436Leu), and one novel variant in the KIF23 gene (p.Leu945Trpfs*31). The in silico analysis of novel variants predict that they are pathogenic and, the in vitro study confirms the functional impact of the KIF23 variant on the protein location.

Keywords: CDA types Ib; II and III. CDIN1; SEC23B and KIF23 genes.

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