Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome.
BACKGROUND
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.


METHODS
Mutation analysis of p63 gene in the first Chinese ADULT syndrome family was performed using direct DNA sequencing.


RESULTS
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).


CONCLUSIONS
ADULT syndrome may be caused by the p63 gene mutation, and it might have closer genetic association with the paternal side in this family.
Department of Dermatology, Second Affiliated Hospital of Guangzhou Medical College, Guangdong, China.
Xia
X
Wang
Jian
J
Yang
Ai-lin
AL
Tao
Wen-lin
WL
Yang
Hong-juan
HJ
Zhang
D000328:Adult; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008958:Models, Molecular; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017434:Protein Structure, Tertiary; D015534:Trans-Activators / Q000737:chemistry / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000737:chemistry / Q000235:genetics*
C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins