Hayflick S J, Taylor T, McKinnon W, Guttmacher A E, Litt M, Zonana J
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201-3098, USA.
J Invest Dermatol. 1996 Jul;107(1):11-4. doi: 10.1111/1523-1747.ep12295239.
Clouston syndrome is an hidrotic form of ectodermal dysplasia, inherited as an autosomal dominant trait with high penetrance. The main features of the disorder are alopecia, severe dystrophy of the nails, and palmoplantar hyperkeratosis. A molecular abnormality of keratin has long been hypothesized to be the basic defect in this disorder. We have performed linkage analyses between the disorder and markers close to the keratin gene clusters on chromosomes 12 and 17 and have excluded linkage to these candidate regions in three apparently unrelated families. In addition, linkage has been excluded to four other candidate regions including 1q2l, 17q23-qter, 18q2l, and 2Oql2. These data indicate that Clouston syndrome is not due to a defect in keratin or in a subset of keratin-associated proteins.
克罗斯顿综合征是外胚层发育不良的一种出汗型，呈常染色体显性遗传，具有高外显率。该病症的主要特征为脱发、指甲严重营养不良以及掌跖角化过度。长期以来，人们一直推测角蛋白的分子异常是该病症的基本缺陷。我们对该病症与12号和17号染色体上靠近角蛋白基因簇的标记进行了连锁分析，并在三个明显无亲缘关系的家族中排除了与这些候选区域的连锁关系。此外，也排除了与其他四个候选区域的连锁关系，包括1q2l、17q23 - qter、18q2l和2Oql2。这些数据表明，克罗斯顿综合征并非由角蛋白或角蛋白相关蛋白亚群的缺陷所致。
