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A mutation of the p63 gene in non-syndromic cleft lip


Mutations in the p63 gene (TP63) underlie several monogenic malformation syndromes manifesting cleft lip with or without cleft palate (CL/P). We investigated whether p63 mutations also result in non-syndromic CL/P. Specifically, we performed mutation analysis of the 16 exons of the p63 gene for 100 Thai patients with non-syndromic CL/P. In total, 21 variant sites were identified. All were single nucleotide changes, with six in coding regions, including three novel non-synonymous changes: S90L, R313G, and D564H. The R313G was concluded to be pathogenic on the basis of its amino acid change, evolutionary conservation, its occurrence in a functionally important domain, its predicted damaging function, its de novo occurrence, and its absence in 500 control individuals. Our data strongly suggest, for the first time, a causative role of a heterozygous mutation in the p63 gene in non-syndromic CL/P, highlighting the wide phenotypic spectrum of p63 gene mutations.

  • AEC, ankyloblepharon-ectodermal dysplasia-clefting syndrome
  • CL/P, cleft lip with or without cleft palate
  • DB, DNA binding
  • EEC, ectrodactyly-ectodermal dysplasia-clefting syndrome
  • ESE, exonic splicing enhancer
  • RHS, Rapp-Hodgkin syndrome
  • SAM, sterile α-motif, SR, serine/arginine-rich
  • TA, transactivating
  • and TI, transactivation inhibitory
  • non-syndromic cleft lip
  • p63
  • mutations

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