单纯性大疱性表皮松解症:KRT5和KRT14基因的复发突变和新突变、表型/基因型的相关性以及对遗传咨询和产前诊断的意义  

Epidermolysis bullosa simplex: Recurrent and de novo mutations in the KRT5 andKRT14 genes,phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis

作　　者：Pfendner E.G. Sadowski S.G. Uitto J. 李翠华 

机构地区：[1]Department of Dermatology and Cutaneous Biology, Jefferson Medical College, BLSB, 233 S. 10th Street, Philadelphia, PA 19107, United States Dr

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2006年第3期18-19,共2页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：Epidermolysis bullosa simplex (EBS) is a mechano-bullous disorder characterized by intraepidermal blistering within the basal keratinocytes as a result of trauma to the skin. As part of the DNA diagnostics program, our laboratory has analyzed a cohort of 57 patients with the initial referral diagnosis of EBS. Among these patients, 18 were found to harbor heterozygous mutations in the keratin 5 or keratin 14 genes, KRT5 and KRT14, respectively, whereas in 14 cases, the disease was associated with mutations in both alleles of the plectin gene. Among the keratin mutations, 12 were distinct and six were novel, and in most cases there was no family history of a blistering disease. Prenatal diagnosis of eight pregnancies with keratin gene mutations, at risk for EBS either because one of the parents was affected (three cases) or history of a previously affected child as a result of a de novo mutation (five cases), predicted two fetuses being affected and six being normal. No recurrence of the de novo mutations in these pregnancies was disclosed. Collectively, the data suggest that a significant number of cases diagnosed as EBS are due to plectin mutations, and many cases result from de novo mutations in KRT5 and KRT14 genes. These findings have implications for genetic counseling and prenatal diagnosis for EBS.Epidermolysis bullosa simplex （EBS） is a mechano-bullous disorder characterized by intraepidermal blistering within the basal keratinocytes as a result of trauma to the skin. As part of the DNA diagnostics program, our laboratory has analyzed a cohort of 57 patients with the initial referral diagnosis of EBS. Among these patients, 18 were found to harbor heterozygous mutations in the keratin 5 or keratin 14 genes, KRT5 and KRTI4, respectively, whereas in 14 cases, the disease was associated with mutations in both alleles of the plectin gene. Among the keratin mutations, 12 were distinct and six were novel, and in most cases there was no family history of a blistering disease.

关 键 词：大疱性表皮松解症 等位基因突变 产前诊断 表型/基因型 4基因 单纯性 遗传咨询 大疱性皮肤病 复发 角质形成细胞 

分 类 号：R758.59[医药卫生—皮肤病学与性病学] R446.5[医药卫生—临床医学]