Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.

Abstract

Papillon-Lefèvre syndrome (PLS) has recently been shown to be caused by mutations in the cathepsin C gene resulting in periodontal disease and palmoplantar keratosis. Thirteen different homozygous mutations have been characterised in PLS patients of different ethnic origin. In the present paper, a PLS patient is described who carries two novel mutations (706G>T and 872G>A) in the paternal and maternal chromosomes, respectively. This is the first compound patient described so far. In addition, a novel symptomless mutation (458C>T) in the cathepsin C gene is described in three homozygous individuals. Thus, not all mutations should be considered as a cause of disease, whether case studies or general population screening is performed. Another already described mutation that provoked the Haim-Munk syndrome (HMS) in Indian Jews has also been found to give rise to PLS in a Spanish family from Madrid. On the other hand, PLS patients are ameliorated by retinoids, which indicates that retinoids may be used as therapeutic agents in this immune system deficiency.

• Authors: L M Allende, M A García-Pérez, A Moreno, A Corell, M Carasol, P Martínez-Canut, A Arnaiz-Villena
• Journal: Human mutation (Hum Mutat) Vol. 17 Issue 2 Pg. 152-3 (Feb 2001) ISSN: 1098-1004 [Electronic] United States
• PMID: 11180601 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 Wiley-Liss, Inc.

Chemical References

• DNA
• Cathepsin C

Topics

• Alleles
• Cathepsin C (genetics)
• DNA (chemistry, genetics)
• DNA Mutational Analysis
• Family Health
• Female
• Gene Frequency
• Heterozygote
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Mutation, Missense
• Papillon-Lefevre Disease (enzymology, genetics, pathology)