表皮松解掌跖角化症一家系KRT9基因突变的分子遗传学研究

A keratin 9 gene mutation (p.Met157Thr) in a Chinese pedigree with epidermolytic palmoplantar keratoderma

目的研究一个涉及5代人,受累人数11人的表皮松解掌趾角化症家系KRT9的突变类型。方法获得家系成员知情同意后,采集7名患者及4名正常成员的标本。随机抽取20例无血缘关系的正常人作为对照。采用聚合酶链反应及直接测序的方法进行KRT9基因突变检测。结果患者的KRT9基因第1外显子中的第156位密码子发生ATG→ACG的突变,导致甲硫氨酸(Met)被苏氨酸(Thr)取代。在非编码区检测到KRT9基因-99位点存在多态性(G/A)。结论该病例报道了中国人群中的一种导致表皮松解掌趾角化症的KRT9突变:c.467T>C(p.Met157Thr),丰富了KRT9基因突变图谱。

Objective To analyze the gene mutation of Keratin 9 gene in 5-generation pedigree with EPPK,involving 11 affected individuals.Methods After obtaining informed consent,blood samples was obtained from 7 patients and 4 normal members in the family.Besides,twenty apparently unrelated controls were randomly selected.DNA genome was amplified by polymerase chain reaction amplification,followed by direct sequencing.Results Affected individuals carried a recurrent mutation of ketatin 9(p.Met157Thr)in the coiled 1A region.The KRT9 gene-99 G/A polymorphism was detected.Conclusion This report describes a KRT9 c.467T>C(p.Met157Thr)variant causing a diffuse phenotype of Chinese EPPK.The current results broaden the spectrum of KRT9 pathogenic variants.