A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism.
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.
Luo
Tongxiu
T
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.
Yu
Weishi
W
Yuan
Zengjin
Z
Deng
Yun
Y
Zhao
Yulian
Y
Yuan
Wuzhou
W
Xiao
Jing
J
Wang
Yuequn
Y
Luo
Na
N
Mo
Xiaoyang
X
Li
Yongqing
Y
Liu
Mingyao
M
Wu
Xiushan
X
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