Szigeti Réka, Chao Sheau-Chiou, Várszegi Dalma, Czakó Márta, Kosztolányi György, Kellermayer Richárd
Baranya Megyei Kórház, Központi Laboratórium, Pécs.
Orv Hetil. 2005 Sep 11;146(37):1933-5.
Hailey-Hailey disease, or chronic benign pemphigus (MIM# 169600), is a genodermatosis arising in adult age with recurrent vesicles and erosions primarily in the flexural areas. It is an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion in the suprabasal layers of the epidermis. ATP2C1, encoding the human secretory pathway Ca(2+)-ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey disease. More than 82 different ATP2C1 mutations have been described up to date. In this study, a case of Hailey-Hailey disease is presented where a nucleotide change (1402C > T) in the decoding region of ATP2C1 resulted in a premature stop mutation (R468X). This defect has been reported earlier in a patient of European descent. A brief molecular genetic review of the disorder is also given.
黑利-黑利病，即慢性良性天疱疮（MIM# 169600），是一种成年起病的遗传性皮肤病，主要在屈侧部位出现反复发作的水疱和糜烂。它是一种常染色体显性遗传性皮肤疾病，其特征为表皮基底层上方角质形成细胞黏附异常。编码人类分泌途径Ca(2+)-ATP酶（hSPCA1）的ATP2C1基因最近被确定为黑利-黑利病中的缺陷基因。截至目前，已描述了82种以上不同的ATP2C1突变。在本研究中，报告了1例黑利-黑利病病例，其中ATP2C1解码区的一个核苷酸变化（1402C > T）导致了一个提前终止突变（R468X）。这种缺陷在一名欧洲血统患者中曾有过更早的报道。本文还对该疾病进行了简要的分子遗传学综述。
