KERATIN-16 AND KERATIN-17 MUTATIONS CAUSE PACHYONYCHIA-CONGENITA
KERATIN-16 AND KERATIN-17 MUTATIONS CAUSE PACHYONYCHIA-CONGENITA
复制标题
DOI：
10.1038/ng0395-273
复制
发表时间：
1995-03-01
期刊：
影响因子：
30.8
通讯作者：
MUNRO, CS
中科院分区：
文献类型：
--
作者：
MCLEAN, WHI;RUGG, EL;MUNRO, CS
先天性厚甲病是一组以甲营养不良和其他外胚层畸形为特征的常染色体显性遗传病。Jackson-Lawler PC的基因最近被映射到17 q上的I型角蛋白簇。在这里，我们表明，在螺旋起始基序的K17（Asn 92 Asp）的杂合错义突变cosegregates与疾病在这个家族。我们还表明，Jadassohn-Lewandowsky PC是由K16（Leu 130 Pro）的螺旋起始肽中的杂合错义突变引起的。这些角蛋白在表皮结构中的已知表达模式与在每种形式的PC中观察到的特定异常相关。
Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for Jackson-Lawler PC was recently mapped to the type I keratin cluster on 17q. Here, we show that a heterozygous missense mutation in the helix initiation motif of K17 (Asn92Asp) cosegregates with the disease in this kindred. We also show that Jadassohn-Lewandowsky PC is caused by a heterozygous missense mutation in the helix initiation peptide of K16 (Leu130Pro). The known expression patterns of these keratins in epidermal structures correlates with the specific abnormalities observed in each form of PC.