Liu Y T, Guo K, Li J, Liu Y, Zeng W H, Geng S M
Department of Dermatology, Northwest hospital, Xi'an Jiaotong University, Xi'an, China.
Clin Exp Dermatol. 2015 Oct;40(7):770-3. doi: 10.1111/ced.12654. Epub 2015 Mar 26.
Clouston syndrome (CS; also termed hidrotic ectodermal dysplasia) is a rare autosomal dominant genetic skin disorder, characterized by alopecia, nail dystrophy, and palmoplantar hyperkeratosis. Mutations in the GJB6 gene, which encodes the gap junction protein connexin 30, have been shown to cause this disorder. To date, four mutations of GJB6 have been found in patients with CS: G11R, V37E, D50N and A88V. Mutations in GJA1 (V41L) and GJB2 (R127H) are also related to CS. We found a novel missense mutation, N14S, in GJB6 and the previously identified F191L mutation in GJB2 (Cx26) in a proband with CS in a Han Chinese pedigree; these mutations were not found in 200 ethnically matched nonconsanguineous Han Chinese controls.
克劳斯顿综合征（CS；也称为汗孔性外胚层发育不良）是一种罕见的常染色体显性遗传性皮肤病，其特征为脱发、甲营养不良和掌跖角化过度。编码缝隙连接蛋白连接蛋白30的GJB6基因突变已被证明可导致这种疾病。迄今为止，在CS患者中已发现GJB6的四种突变：G11R、V37E、D50N和A88V。GJA1（V41L）和GJB2（R127H）的突变也与CS有关。我们在一个汉族家系的CS先证者中发现了GJB6中的一个新的错义突变N14S以及先前鉴定出的GJB2（Cx26）中的F191L突变；在200名种族匹配的非近亲汉族对照中未发现这些突变。
