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

• Published in: Chinese medical journal Vol. 122; no. 16; pp. 1867 - 1871
• Main Authors: Wang, Xia, Yang, Jian, Tao, Ai-lin, Yang, Wen-lin, Zhang, Hong-juan
• Format: Journal Article
• Language: English
• Published: China Department of Dermatology,Second Affiliated Hospital of Guangzhou Medical College,Guangzhou,Guangdong 510260,China%Department of Allergology,Second Affiliated Hospital of Guangzhou Medical College,Guangzhou,Guangdong 510260,China 20.08.2009
• Subjects: 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; Trans-Activators - genetics; Transcription Factors; Tumor Suppressor Proteins - chemistry; Tumor Suppressor Proteins - genetics; 华人; 单核苷酸多态性; 基因突变; 家庭; 成人; 显性遗传; 突变分析; 综合征; mutation; single nucleotide polymorphism; ADULT syndrome; p63 gene
• ISSN: 0366-6999; 2542-5641; 2542-5641
• DOI: 10.3760/cma.j.issn.0366-6999.2009.16.006

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.