A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb

摘要

Pachyonychia congenita type 2 (PC-2) (MIM 167210; Jack-son-Lawler syndrome) is an autosomal dominant keratin disorder characterized by hypertrophic nail dystrophy with multiple pilosebaceous cysts. Genetic defects in PC-2 have been correlated with two different keratin genes: keratin 17 (KRT17) and keratin 6b (KRT6B).1'2 We report here a novel missense mutation, methionine at codon 88 to lysine (p.M88K), of KRT17, which was detected using RNA from only an individual hair bulb#