title: A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.
abstract: Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. We report a large Chinese pedigree of typical delayed-onset PC-2 that includes 19 affected members. Direct sequencing of PCR products revealed a novel heterozygous 325A-->G mutation in the affected members. This mutation predicts the substitution of asparagine by aspartic acid in codon 109 (N109D) located in the second half of the keratin 17 1A domain, where similar mutation in keratin 5 is associated with the mild Weber-Cockayne form of epidermolysis bullosa simplex.
authors.affiliation: Department of Dermatology, the Second Hospital, Xi'an Jiaotong University, Shaanxi, China. Xiao_SX@163.com
authors.forename: Sheng-Xiang
authors.initials: SX
authors.lastname: Xiao
authors.forename: Yi-Guo
authors.initials: YG
authors.lastname: Feng
authors.forename: Xiao-Rong
authors.initials: XR
authors.lastname: Ren
authors.forename: Sheng-Shun
authors.initials: SS
authors.lastname: Tan
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.forename: Jun-Min
authors.initials: JM
authors.lastname: Wang
authors.forename: Yao-Zhou
authors.initials: YZ
authors.lastname: Shi
mesh_terms: D000225:Adenine; D017668:Age of Onset; D019943:Amino Acid Substitution; D001216:Asparagine; D001224:Aspartic Acid; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005260:Female; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009260:Nail Diseases / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017434:Protein Structure, Tertiary / Q000235:genetics
chemical_list: D003062:Codon; D001224:Aspartic Acid; D006147:Guanine; D007633:Keratins; D001216:Asparagine; D000225:Adenine