Three novel heterozygous ANK1 loss-of-function variants cause hereditary spherocytosis in Chinese families.

ABSTRACT:

Background and purposes

Hereditary spherocytosis (HS) is an inherited hemolytic anemia caused by variants in red blood cell cytoskeleton proteins. Advances in sequencing technology have revealed numerous novel variants; however, accurate genome annotation remains a significant challenge. In precision medicine, the precise identification of variants responsible for genetic diseases is crucial. This study aims to clearly delineate pathogenic variants and provide targeted pathogenicity analyses.

Methods

We analyzed clinical data from three unrelated Chinese families with HS. Our investigation delved into the pathogenicity and underlying mechanisms of these variants. In silico simulations and in vitro experiments were employed to assess the effects of the identified variants.

SUBMITTER: Wang Y 

PROVIDER: S-EPMC12432090 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature