Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome / 中华医学杂志(英文版)

ABSTRACT

<p><b>BACKGROUND</b>ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome) is a rare ectodermal dysplasia disorder known as autosomal dominant inheritance. Recent studies have linked p63 gene mutation to the development of this disease. However, the genetic characteristics of ADULT syndrome were still not well understood.</p><p><b>METHODS</b>Mutation analysis of p63 gene in the first Chinese ADULT syndrome family was performed using direct DNA sequencing.</p><p><b>RESULTS</b>The sequence analysis of exon 8 of p63 gene disclosed a heterozygous G>A substitution at nucleotide 893 (R298Q) in the proband. In addition, a single nucleotide polymorphism (SNP) rs16864880 in the downstream flanking region (DFR) of p63 exon 8 was also identified in this family. The proband and the paternal side including her father exhibited the C/G genotype at this position. The C/G variant frequency in the paternal was significantly higher as compared with the maternal (6/10 vs 0/6, P = 0.034).</p><p><b>CONCLUSIONS</b>ADULT syndrome may be caused by the p63 gene mutation, and it might have closer genetic association with the paternal side in this family.</p>