A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.
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.
Xiao
Sheng-Xiang
SX
Department of Dermatology, the Second Hospital, Xi'an Jiaotong University, Shaanxi, China. Xiao_SX@163.com
Feng
Yi-Guo
YG
Ren
Xiao-Rong
XR
Tan
Sheng-Shun
SS
Li
Li
L
Wang
Jun-Min
JM
Shi
Yao-Zhou
YZ
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
D003062:Codon; D001224:Aspartic Acid; D006147:Guanine; D007633:Keratins; D001216:Asparagine; D000225:Adenine