意大利Hailey-Hailey病患者ATP2C1基因突变分析  

ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease

作　　者：Majore S. Biolcati G. Barboni L. P. Grammatico 朱国兴 

机构地区：[1]Medical Genetics, Experimental Medicine and Pathology Department,University La Sapienza, S. Camillo-Forlanini Hospital, Circ.ne Gianicolense n. 87, 00152 Rome, Italy Prof.

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2006年第8期20-20,共1页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：Hailey-Hailey disease (HHD) is a rare autosomal dominant disorder characterized by recurrent skin lesions predominantly involving the body folds. It is caused by heterozygous mutations in the ATP2C1 gene, encoding the human secretory pathway Ca2+ /Mn2+ - ATPase protein 1 (hSPCA1). In this report we describe the molecular studies performed in eight HHD cases from Italy that led us to identify six different mutations scattered through the ATP2C1 gene in seven of eight cases. Four of the detected mutations were novel. Our results confirm the high allelic heterogeneity of the ATP2C1 gene and support the notion that HHD is a genetically homogeneous disorder. Furthermore, we created a table summarizing all previously reported ATP2C1 mutations, adapting the nomenclature, if needed, according to the guidelines of the Human Genome Variation Society.Hailey-Hailey disease （HHD） is a rare autosomal dominant disorder characterized by recurrent skin lesions predominantly involving the body folds. It is caused by heterozygous mutations in the ATP2C1 gene, encoding the human secretory pathway Ca2^＋/Mn2^＋ - ATPase protein 1 （hSPCA1）. In this report we describe the molecular studies performed in eight HHD cases from Italy that led us to identify six different mutations scattered through the ATP2C1 gene in seven of eight cases. Four of the detected mutations were novel. Our results confirm the high allelic heterogeneity of the ATP2C1 gene and support the notion that HHD is a genetically homogeneous disorder. Furthermore, we created a table summarizing all previously reported ATP2C1 mutations, adapting the nomenclature, if needed, according to the guidelines of the Human Genome Variation Society.

关 键 词：基因突变分析 意大利 患者 常染色体显性 遗传性病 基因异质性 基因组变异 皱褶部位 

分 类 号：R733.72[医药卫生—肿瘤] R47[医药卫生—临床医学]