A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation.

ABSTRACT:

Background

Split-hand/foot malformation (SHFM) is a severe congenital disability mainly characterized by the absence or hypoplasia of the central ray of the hand/foot. To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B. Herein, we report a novel variant of TP63 heterozygously present in affected members of a family with SHFM.

Methods

This study investigated a Chinese family, in which the proband and his son suffered from SHFM. The peripheral blood sample of the proband was used to perform whole-exome sequencing (WES) to explore the possible genetic causes of this disease. Postsequencing bioinformatic analyses and Sanger sequencing were conducted to verify the iden

SUBMITTER: Geng H 

PROVIDER: S-EPMC7714569 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature