Author(s): Hart, Patricia Suzanne ; Pallos, Débora ; Zhang, Yingze ; Sanchez, Jane ; Kavamura, Ines ; Brunoni, Décio ; Hart, Thomas Charles.
Date: 2019
Origin: Oasisbr
Subject(s): Cathepsin C; Papillon-Lefevre Syndrome; Palmoplantar Keratoderma; Nonsense Mutation; Mutational Analysis; Gene; Endocrinology & Metabolism; Genetics & Heredity; Medicine, Research & Experimental; Endocrinology & Metabolism; Genetics & Heredity; Research & Experimental Medicine
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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.
Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA; Universidade de Taubaté (Unitau), Sch Dent, Dept Periodont, Sao Paulo, Brazil; Univ Pittsburgh, Sch Dent Med, Ctr Craniofacial & Dent Genet, Pittsburgh, PA 15261 USA; Univ Fed Sao Paulo, Ctr Genet Med, Sao Paulo, Brazil
