角蛋白14基因发生错义和移码突变导致3例严重的Dowling-Meara型单纯型大疱性表皮松解症  

Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene

作　　者：Titeux M. Mazereeuw-Hautier J. Hadj-Rabia S. A. Hovnanian 朱国兴 

机构地区：[1]INSERM U563, Purpan Hospital, Toulouse, France Prof.

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2006年第6期14-14,共1页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：We report three unrelated patients affected at birth with an unusually severe form of epidermolysis bullosa simplex Dowling-Meara type (EBS-DM) because of mutations in KRT14 encoding keratin 14. Two patients were heterozygous for the previously described p.M119T mutation. The third patient was heterozygous for a novel c.1246delC mutation predicting the replacement of the helix termination peptide and the tail domain by a 25 amino-acid aberrant carboxy terminal sequence. At age 2 years, patients carrying the p.M119T mutation still suffered from severe EBS-DM, whereas the patient harboring the c.1246delC mutation has improved over time. These cases illustrate genotype-phenotype correlations and have implications for genetic counselling of EBS.We report three unrelated patients affected at birth with an unusually severe form of epidermolysis bullosa simplex Dowling-Meara type （EBS-DM） because of mutations in KRT14 encoding keratin 14. Two patients were heterozygous for the previously described p. Mll9T mutation. The third patient was heterozygous for a novel c. 1246delC mutation predicting the replacement of the helix termination peptide and the tail domain by a 25 amino-acid aberrant carboxy terminal sequence. At age 2 years, patients carrying the p. M119T mutation still suffered from severe EBS-DM, whereas the patient harboring the c. 1246delC mutation has improved over time. These cases illustrate genotype-phenotype correlations and have implications for genetic counselling of EBS.

关 键 词：单纯型大疱性表皮松解症 移码突变 角蛋白14 a型 4基因 基因突变 羧基末端 遗传咨询 患者 出生时 

分 类 号：R758.59[医药卫生—皮肤病学与性病学] R734.202[医药卫生—临床医学]