A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.

ABSTRACT:

Background

Hereditary spherocytosis (HS, MIM#612641) is one of the most common hereditary hemolytic disorders. This study aimed to confirm a novel variant's pathogenicity and reveal a patient's genetic etiology.

Methods

The clinical data of a patient with HS who underwent genetic sequencing at the Children's Hospital of Chongqing Medical University were reviewed retrospectively. In silico prediction and in vitro minigene splicing reporter system were then conducted on the detected variant to analyze its intramolecular impact. A summary of the literature related to HS due to SPTB gene variants was also presented.

Results

A novel variant (c.301-2 A > G) in the SPTB gene (NM_001024858.4) was identified in the proband. Using Sanger sequencing, we conclusively confirmed th

SUBMITTER: Wang Y 

PROVIDER: S-EPMC11318180 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature