A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad
A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad
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DOI：
10.1016/j.jaad.2003.12.042
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发表时间：
2004-09-01
影响因子：
13.8
通讯作者：
Holland, SM
中科院分区：
文献类型：
--
作者：
Montgomery, JR;White, TW;Holland, SM
我们报告一例先天性耳聋的白色配偶，伴有轻度掌跖角化病、鱼鳞病样鳞屑、毛囊角化过度和轻度角膜炎，特征符合角膜炎-鱼鳞病-耳聋综合征。他的主要问题是严重的，毁容，炎症性头皮毛囊炎，化脓性汗腺炎和囊性痤疮，特征包括毛囊闭塞三联征。这种不寻常的表型与差距连接β 2基因中一种新的杂合点突变（C119 T）有关，该突变在连接蛋白26蛋白的密码子40（A40 V）处用缬氨酸取代丙氨酸。通过非洲爪蟾卵母细胞表达研究，这种突变蛋白质被证明显着破坏专门的间隙连接的细胞质的相邻细胞的组织稳态的关键功能。连接蛋白26蛋白内的突变与涉及感音神经性耳聋和角化过度性皮肤病的综合征相关。这是第一次报道连接蛋白26蛋白突变、毛囊角化过度角化性角化炎-鱼鳞病-耳聋综合征和严重毛囊闭塞三联征之间的相关性。
We report the case of a congenitally deaf white mate with mild palmoplantar keratoderma, ichthyosiform scaling, follicular hyperkeratosis, and mild keratitis, features consistent with keratitis-ichthyosis-deafness syndrome. His major problem was severe, disfiguring, inflammatory dissecting folliculitis of the scalp, hidradenitis suppurativa, and cystic acne, features comprising the follicular occlusion triad. This unusual phenotype is associated with a novel heterozygous point mutation (C119T) in the gap junction beta2 gene that substitutes a valine for alanine at codon 40 (A40V) in the connexin 26 protein. Through Xenopus oocyte expression studies, this mutant protein was shown to significantly disrupt the function of the specialized gap junctions connecting the cytoplasm of adjacent cells critical for tissue homeostasis. Mutations within the connexin 26 protein are associated with syndromes involving both sensorineural deafness and hyperkeratotic skin disorders. This is the first report of an association between a connexin 26 protein mutation, follicular hyperkeratosis of keratitis-ichthyosis-deafness syndrome, and severe follicular occlusion triad.