Hennies H C, Zehender D, Kunze J, Küster W, Reis A
Institut für Humangenetik, Freie Universität Berlin, Germany.
Hum Genet. 1994 Jun;93(6):649-54. doi: 10.1007/BF00201564.
Mutations in the human keratin 9 gene have recently been shown to be involved in the etiology of palmoplantar keratoderma (PPK). We have investigated eleven unrelated German kindreds with the epidermolytic variant of PPK (EPPK) for mutations in the keratin 9 gene. We have identified two novel mutations, M156V and Q171P, both in the coil 1A segment of keratin 9. Mutation M156V was detected in two unrelated patients with EPPK, and mutation Q171P was shown to cosegregate with the disease in a large four-generation family. These findings confirm the functional importance of coil 1A integrity for heterodimerisation in keratins and for intermediate filament assembly. Our results provide further evidence for mutational heterogeneity in EPPK, and for the involvement of keratins in diseases of hyperkeratinisation and epidermolysis.
最近研究表明，人类角蛋白9基因的突变与掌跖角化病（PPK）的病因有关。我们对11个患有表皮松解性掌跖角化病（EPPK）的无关德国家族进行了角蛋白9基因突变研究。我们在角蛋白9的1A螺旋段中发现了两个新突变，即M156V和Q171P。在两名无关的EPPK患者中检测到了M156V突变，在一个四代大家庭中，Q171P突变与该疾病共分离。这些发现证实了1A螺旋段完整性对角蛋白异二聚化以及中间丝组装的功能重要性。我们的结果为EPPK中的突变异质性以及角蛋白在角化过度和表皮松解疾病中的作用提供了进一步证据。
