A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.

ABSTRACT:

Background

Heterozygous TP63 mutations cause a spectrum of disorders including split-hand/foot malformation 4 (SHFM4) and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3). While some SHFM4 mutations concurrently induce EEC3-like phenotypes (designated SHFM4/EEC3 mutations), their prevalence and distribution-particularly those near the p63 C-terminus-remain poorly characterized.

Method

A multigenerational Chinese family with an isolated form of SHFM was investigated. Genetic analysis included real-time quantitative PCR and Sanger sequencing. Disease mutation databases and literature were systematically reviewed to identify all reported TP63 mutations causing isolated SHFM4 and to classify these mutations by clinical phenotypes.

Results

We identified

SUBMITTER: Yang W 

PROVIDER: S-EPMC12444410 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature