Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing.

ABSTRACT:

Background

Syndactyly (SD) refers to a deformity caused by the fusion and limb differentiation disorder of soft tissues and/or skeletons to varying extents between adjacent fingers (toes). The main features of this disease are phenotypic heterogeneity and genetic heterogeneity. In this study, we examined four generations of a Chinese Mongolian with different phenotypes of syndactylia and analysed and identified the pathogenic genetic variants of SD by exon sequencing.

Methods

The clinical phenotypes of patients were analysed, and the hands and feet were examined by X-ray. The pedigree was drawn, and the family data were analysed. Peripheral blood was collected from the family members, and genomic DNA was extracted. The candidate genes of SD were identified by exon sequencing

SUBMITTER: Husile H 

PROVIDER: S-EPMC9533607 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature