title: 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.affiliation: The Center For Heart Development, Key Lab of MOE for Development Biology and Protein Chemistry, College of Life Science, Hunan Normal University, Changsha 410081, Hunan, PR China.
authors.forename: Tongxiu
authors.initials: T
authors.lastname: Luo
authors.forename: Weishi
authors.initials: W
authors.lastname: Yu
authors.forename: Zengjin
authors.initials: Z
authors.lastname: Yuan
authors.forename: Yun
authors.initials: Y
authors.lastname: Deng
authors.forename: Yulian
authors.initials: Y
authors.lastname: Zhao
authors.forename: Wuzhou
authors.initials: W
authors.lastname: Yuan
authors.forename: Jing
authors.initials: J
authors.lastname: Xiao
authors.forename: Yuequn
authors.initials: Y
authors.lastname: Wang
authors.forename: Na
authors.initials: N
authors.lastname: Luo
authors.forename: Xiaoyang
authors.initials: X
authors.lastname: Mo
authors.forename: Yongqing
authors.initials: Y
authors.lastname: Li
authors.forename: Mingyao
authors.initials: M
authors.lastname: Liu
authors.forename: Xiushan
authors.initials: X
authors.lastname: Wu
mesh_terms: D044466:Asian People; D001483:Base Sequence; D005532:Foot Deformities, Congenital / Q000235:genetics*; D016158:Genes, p53; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D013576:Syndactyly / Q000235:genetics