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...

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Bibliographic Details
Published in:Journal of medical genetics 2006-06, Vol.43 (6), p.e28-e28
Main Authors: Leoyklang, P, Siriwan, P, Shotelersuk, V
Format: Article
Language:English
Subjects:
AEC
and TI
ankyloblepharon-ectodermal dysplasia-clefting syndrome
Blood & organ donations
Child, Preschool
CL/P
Cleft Lip - diagnosis
Cleft Lip - genetics
cleft lip with or without cleft palate
Cleft Palate - diagnosis
Cleft Palate - genetics
Confidence intervals
Deoxyribonucleic acid
DNA
DNA binding
DNA Mutational Analysis
DNA-Binding Proteins - genetics
ectrodactyly-ectodermal dysplasia-clefting syndrome
EEC
Electronic Letter
Enzymes
ESE
exonic splicing enhancer
Families & family life
Female
Genes
Genetic engineering
Humans
Male
Mutation
mutations
non-syndromic cleft lip
p63
Paternity
Point Mutation
Rapp-Hodgkin syndrome
RHS
SAM
serine/arginine-rich
sterile α-motif
Studies
Trans-Activators - genetics
transactivating
transactivation inhibitory
Transcription Factors
Tumor Suppressor Proteins - genetics
Citations: Items that cite this one
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Description
Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2005.036442