A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism.

Abstract

p63 is a transcription factor homologous to p53 and p73; mutations in this gene have been identified in individuals with several types of developmental abnormalities, including EEC (ectrodactyly, ectodermal dysplasia, facial clefts) syndrome and split-hand/split-foot malformation (SHFM). Several mutations in the p63 gene have previously been shown to be related to SHFM. In this study, we report on a Chinese family with intrafamilial clinical variability of SHFM that have a novel heterozygous mutation in all four affected individuals. The mutation is in exon 8 of p63, 1046G --> A, which predicts an amino acid substitution G310E. SSCP analysis of the segregation pattern of the mutation strongly suggests a causal relationship to the SHFM phenotype in p63. This mutation has not been observed in other countries in the world.

• Authors: Tongxiu Luo, Weishi Yu, Zengjin Yuan, Yun Deng, Yulian Zhao, Wuzhou Yuan, Jing Xiao, Yuequn Wang, Na Luo, Xiaoyang Mo, Yongqing Li, Mingyao Liu, Xiushan Wu
• Journal: Mutation research (Mutat Res) Vol. 637 Issue 1-2 Pg. 182-9 (Jan 01 2008) ISSN: 0027-5107 [Print] Netherlands
• PMID: 17915261 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Asian People
• Base Sequence
• Foot Deformities, Congenital (genetics)
• Genes, p53
• Hand Deformities, Congenital (genetics)
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Pedigree
• Polymorphism, Single-Stranded Conformational
• Syndactyly (genetics)