Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

ABSTRACT:

Background

Tumor protein p63 is an important transcription factor regulating epithelial morphogenesis. Variants associated with the TP63 gene are known to cause multiple disorders. In this study, we determined the genetic cause of split-hand/foot malformation in a Chinese pedigree.

Methods

For this study, we have recruited a Chinese family and collected samples from affected and normal individuals of the family (three affected and two normal). Whole exome sequencing was performed to detect the underlying genetic defect in this family. The potential variant was validated using the Sanger sequencing approach.

Results

Using whole-exome and Sanger sequencing, we identified a novel heterozygous pathogenic missense variant in TP63 (NM_003722.5: c.921G > T; p.Met307Ile). Thi

SUBMITTER: Miao M 

PROVIDER: S-EPMC9281006 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature