ADULT 综合征首家中国家族 p63 基因突变分析。

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

机构信息

Department of Dermatology, Second Affiliated Hospital of Guangzhou Medical College, Guangdong, China.

出版信息

Chin Med J (Engl). 2009 Aug 20;122(16):1867-71.

PMID:19781362

Abstract

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.

摘要

背景

成人综合征（acro-dermato-ungual-lacrimal-tooth 综合征）是一种罕见的外胚层发育不良疾病，呈常染色体显性遗传。最近的研究将 p63 基因突变与该病的发生联系起来。然而，成人综合征的遗传特征仍未得到很好的理解。

方法

采用直接 DNA 测序的方法，对第一个中国成人综合征家系的 p63 基因突变进行分析。

结果

p63 基因第 8 外显子的序列分析显示，先证者存在核苷酸 893（R298Q）处的杂合 G>A 取代。此外，还在 p63 第 8 外显子下游侧翼区（DFR）鉴定到一个单核苷酸多态性（SNP）rs16864880。该位置在先证者及其父亲所在的父系中表现为 C/G 基因型。与母系相比，该变异在父系中的频率明显更高（6/10 比 0/6，P=0.034）。