Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome

Hart, P. S.; Pallos, D.; Zhang, Y.; Sanchez, J.; Kavamura, I; Brunoni, D.; Hart, T. C.

Date

2002-06-01

Author

Hart, P. S.

Pallos, D.

Zhang, Y.

Sanchez, J.

Kavamura, I

Brunoni, D.

Hart, T. C.

Type

Artigo

ISSN

1096-7192

Is part of

Molecular Genetics and Metabolism

DOI

10.1016/S1096-7192(02)00031-8

Metadata

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Abstract

Papillon-Lefevre syndrome (PLS) is an autosomal recessive palmoplantar keratoderma caused by cathepsin C (CTSC) gene mutations. This study reports CTSC mutational and enzyme analyses in a consanguineous Brazilian family with PLS, representing the first enzymatic analysis of a Brazilian kinship with PLS. This family segregates a novel PLS-related mutation, p.W185X, that is associated with a complete loss of enzymatic activity. (C) 2002 Elsevier Science (USA). All rights reserved.

Citation

Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 76, n. 2, p. 145-147, 2002.