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

作者：Luo, Tongxiu; Yu, Weishi; Yuan, Zengjin; Deng, Yun; Zhao, Yuhan; Yuan, Wuzhou; Mao, Jing; Wang, Yuequn; Luo, Na; Mo, Xiaoyang; Li, Yongqing^*; Liu, Mingyao; Wu, Xiushan

来源：Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis, 2008, 637(1-2): 182-189.

DOI：10.1016/j.mrfmmm.2007.08.010

• p63
• SHFM
• missense mutation
• SSCP
• Chinese family

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.

• 出版日期2008-1-1
• 单位湖南师范大学