Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene
Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene
复制标题
DOI：
10.1111/exd.12292
复制
发表时间：
2014-01-01
影响因子：
3.6
通讯作者：
Hovnanian, Alain
中科院分区：
文献类型：
--
作者：
Ishida-Yamamoto, Akemi;Furio, Laetitia;Hovnanian, Alain
脱皮综合征（PSS） B型是一种罕见的隐性遗传性皮肤病，其特征是终身广泛的皮肤发红脱皮并伴有瘙痒。这种疾病是由角膜粘连蛋白基因（CDSN）的小规模突变导致过早终止密码子引起的。我们首次报道一例日本病例，原因是CDSN完全缺失。表皮未检测到角膜粘连酶，CDSN无法通过PCR扩增。QMPSF分析显示从每个亲本遗传的CDSN外显子缺失。利用微卫星单倍型、CGH阵列和PCR分析进行缺失定位，发现HCG22和TCF19之间的基因组缺失长度为49-72kb，删除了6p21.33上银屑病易感区1 （PSORS1）内的CDSN和其他5个基因。这一发现拓宽了B型PSS的分子缺陷谱，并表明PSORS1区域这5个基因的缺失不会导致额外的皮肤表型。
Peeling skin syndrome (PSS) type B is a rare recessive genodermatosis characterized by lifelong widespread, reddish peeling of the skin with pruritus. The disease is caused by small-scale mutations in the Corneodesmosin gene (CDSN) leading to premature termination codons. We report for the first time a Japanese case resulting from complete deletion of CDSN. Corneodesmosin was undetectable in the epidermis, and CDSN was unamplifiable by PCR. QMPSF analysis demonstrated deletion of CDSN exons inherited from each parent. Deletion mapping using microsatellite haplotyping, CGH array and PCR analysis established that the genomic deletion spanned 49-72kb between HCG22 and TCF19, removing CDSN as well as five other genes within the psoriasis susceptibility region 1 (PSORS1) on 6p21.33. This observation widens the spectrum of molecular defects underlying PSS type B and shows that loss of these five genes from the PSORS1 region does not result in an additional cutaneous phenotype.