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作者机构：INSERM U563 Purpan Hospital Toulouse France Prof.
出 版 物：《世界核心医学期刊文摘（皮肤病学分册）》 (Digest of the World Core Medical JOurnals:Dermatology)
年 卷 期：2006年第2卷第6期
页 面：14-14页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 100206[医学-皮肤病与性病学] 10[医学]
主 题：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
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.
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