Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome.
- Author:
Xia WANG
1
;
Jian YANG
;
Ai-lin TAO
;
Wen-lin YANG
;
Hong-juan ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; DNA Mutational Analysis; Ectodermal Dysplasia; genetics; Female; Genetic Predisposition to Disease; Humans; Male; Models, Molecular; Mutation; genetics; Pedigree; Protein Structure, Tertiary; Trans-Activators; chemistry; genetics; Transcription Factors; Tumor Suppressor Proteins; chemistry; genetics
- From: Chinese Medical Journal 2009;122(16):1867-1871
- CountryChina
- Language:English
-
Abstract:
BACKGROUNDADULT 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.
METHODSMutation analysis of p63 gene in the first Chinese ADULT syndrome family was performed using direct DNA sequencing.
RESULTSThe 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).
CONCLUSIONSADULT syndrome may be caused by the p63 gene mutation, and it might have closer genetic association with the paternal side in this family.
