Rácz E, Csikós M, Kárpáti S
Department of Dermato-Venereology, Semmelweis University, Budapest, Hungary.
Clin Exp Dermatol. 2005 Sep;30(5):575-7. doi: 10.1111/j.1365-2230.2005.01879.x.
Benign familial chronic pemphigus (Hailey-Hailey disease, HHD) is a rare hereditary condition characterized by development of blisters at sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene, which encodes the human secretory pathway calcium ATPase 1 (hSPCA1), have been identified as possible causative mutations. Studying Hungarian patients with HHD, we found two novel, distinct, heterozygous mutations. In a 65-year-old man with a 41-year history of severe recurrent symptoms, a single nucleotide insertion, 1085insA, was detected. In a patient whose symptoms were induced by environmental contact allergens, we found a nonsense mutation, Q506X, in exon 17. Our study further illustrates the diversity of mutational events in the pathogenesis of HHD.
良性家族性慢性天疱疮（海利-海利病，HHD）是一种罕见的遗传性疾病，其特征是在摩擦部位和间擦疹区域出现水疱。编码人类分泌途径钙ATP酶1（hSPCA1）的ATP2C1基因突变已被确定为可能的致病突变。在对匈牙利HHD患者的研究中，我们发现了两个新的、不同的杂合突变。在一名有41年严重复发性症状病史的65岁男性中，检测到一个单核苷酸插入，即1085insA。在一名症状由环境接触性过敏原诱发的患者中，我们在外显子17中发现了一个无义突变，Q506X。我们的研究进一步说明了HHD发病机制中突变事件的多样性。
