Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, China.
Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.
J Dermatol. 2019 Nov;46(11):1024-1026. doi: 10.1111/1346-8138.15055. Epub 2019 Aug 21.
Hailey-Hailey disease (HHD) is a rare autosomal dominant inherited keratosis caused by mutations in ATP2C1. The aim of our study was to identify and analyze the features of the mutations in HHD. We examined 52 Chinese Han cases which were diagnosed as HHD based on their clinical and histological findings. Genomic DNA polymerase chain reaction and direct sequencing of ATP2C1 were performed from peripheral blood samples of the patients and 100 unrelated healthy controls. Twenty-five novel mutations and 14 recurrent mutations were identified, including 11 (28.2%) missense mutations, nine (23.1%) frame-shift deletion mutations, eight (20.5%) nonsense mutations, seven (17.9%) splicing mutations and four (10.3%) frame-shift insertion mutations. Together with ours, all 209 mutations showed a uniform distribution without hotspots or clusters. In addition, there is no specific genotype-phenotype correlation in HHD. Our findings update the spectrum of mutations in ATP2C1.
Hailey-Hailey 病（HHD）是一种罕见的常染色体显性遗传性角化病，由 ATP2C1 基因突变引起。本研究旨在鉴定和分析 HHD 突变的特征。我们根据临床和组织学发现，检查了 52 例被诊断为 HHD 的中国汉族病例。从患者的外周血样本中进行了基因组 DNA 聚合酶链反应和 ATP2C1 的直接测序，并对 100 名无关的健康对照进行了分析。鉴定出 25 个新突变和 14 个重复突变，包括 11 个（28.2%）错义突变、9 个（23.1%）框移缺失突变、8 个（20.5%）无义突变、7 个（17.9%）剪接突变和 4 个（10.3%）框移插入突变。与我们的研究一起，所有 209 个突变都显示出均匀的分布，没有热点或簇。此外，HHD 中没有特定的基因型-表型相关性。我们的发现更新了 ATP2C1 突变谱。
