A missense GDF5 variant causes brachydactyly type A1 and multiple-synostoses syndrome 2.

ABSTRACT:

Objective

This study aimed to identify the molecular defects and clinical manifestations in a Chinese family with brachydactyly (BD) type A1 (BDA1) and multiple-synostoses syndrome 2 (SYNS2).

Methods

A Chinese family with BDA1 and SYNS2 was enrolled in this study. Whole-exome sequencing was used to analyze the gene variants in the proband. The sequences of the candidate pathogenic variant in GDF5 was validated via Sanger sequencing. I-TASSER and PyMOL were used to analyze the functional domains of the corresponding mutant proteins.

Results

The family was found to have an autosomal-dominantly inherited combination of BDA1 and SYNS2 caused by the S475N variant in the GDF5 gene. The variant was located within the functional region, and the mutated residue w

SUBMITTER: Li J 

PROVIDER: S-EPMC10782059 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature