Smith F J, Coleman C M, Bayoumy N M, Tenconi R, Nelson J, David A, McLean W H
Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee, UK.
J Invest Dermatol. 2001 May;116(5):806-8. doi: 10.1046/j.1523-1747.2001.01335.x.
Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. These mutations, R94-98del (deletion of the peptide sequence RLASY) and missense mutations R94P and L95Q, are all within the 1A domain hotspot for pathogenic keratin mutations.
2型先天性厚甲症是一种遗传性外胚层发育不良，其特征为肥厚性甲营养不良和多发性毛囊皮脂腺囊肿。也可能出现局灶性非表皮松解性掌跖角化病、 natal牙和扭曲发。2型先天性厚甲症中受影响的上皮组织表达角蛋白对K6b/K17。在此，我们报告了3例表现为2型先天性厚甲症患者的K17基因（KRT17A）中的新型杂合突变。这些突变，R94-98del（肽序列RLASY缺失）和错义突变R94P及L95Q，均位于致病性角蛋白突变的1A结构域热点内。
