Novel Variant of the SLC4A1 Gene Associated with Hereditary Spherocytosis.

ABSTRACT: Hereditary spherocytosis (HS) refers to the group of the most frequently occurring non-immune hereditary hemolytic anemia in people of Caucasian central or northern European ancestry. HS is mainly associated with pathogenic variants of genes encoding defects in five membrane proteins, including anion exchanger 1 encoded by the SLC4A1 gene. In this study, in a family affected with HS, we identified a hitherto unreported AE1 defect, variant p.G720W. The result of it is most likely the HS phenotype. Molecular dynamics simulation study of the AE1 transmembrane domain may indicate reasonable changes in AE1 domain structure, i.e., significant displacement of the tryptophan residue towards the membrane surface connected with possible changes in AE1 function. The WES analysis verified by cl

SUBMITTER: Boguslawska DM 

PROVIDER: S-EPMC10045460 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature