Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing.

ABSTRACT:

Background

Polydactyly is one of the most common hereditary limb malformation characterized by additional digits in hands and/or feet. With extra fingers/toes, which could be very problematic, polydactyly patients are usually treated in early childhood by removing of extra digits with surgery. Genetically, polydactyly is caused by mutations of genes that involve in digit formation.

Methods

In the current report, we performed genetic analysis for polydactyly using DNA samples from a cohort of 20 Chinese patients. All patients show preaxial polydactyly in one of their hands.

Results

With whole-exome sequencing (WES), we have identified two novel heterozygous mutations c.G2844A in GLI3 gene (OMIM 165240) and c.1409_1410del in EVC gene (OMIM 604831). Compound heterozygous

SUBMITTER: Wang T 

PROVIDER: S-EPMC6565585 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature