Mutation report: identification of a germline mutation in keratin 17 in a family with 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. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.
Celebi
J T
JT
Department of Dermatology, Columbia University, College of Physicians & Surgeon, New York, New York 10032, USA.
Tanzi
E L
EL
Yao
Y J
YJ
Michael
E J
EJ
Peacocke
M
M
D000328:Adult; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D009264:Nails, Malformed / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
D007633:Keratins