Identification of novel mutation in cathepsin C gene causing Papillon-Lefevre Syndrome in Mexican patients.

ABSTRACT:

Background

Papillon-Lefèvre Syndrome (PLS) is a type IV genodermatosis caused by mutations in cathepsin C (CTSC), with a worldwide prevalence of 1-4 cases per million in the general population. In México, the prevalence of this syndrome is unknown, and there are few case reports. The diagnosis of twenty patients in the state of Sinaloa highlights the need to characterize this syndrome in Mexicans.

Methods

To understand the basis of PLS in Mexicans, the gene expression, enzymatic activity and mutational analysis of CTSC were assayed in nine PLS patients and their relatives. Frequencies of CTSC gene polymorphisms and HLA alleles were determined in these patients, their relatives, and the population.

Results

Patients showed normal CTSC gene expression, but a deep reducti

SUBMITTER: Romero-Quintana JG 

PROVIDER: S-EPMC3563609 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature