title: 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.affiliation: Department of Immunology, Hospital 12 de Octubre, Universidad Complutense, Madrid, Spain.
authors.forename: L M
authors.initials: LM
authors.lastname: Allende
authors.forename: M A
authors.initials: MA
authors.lastname: García-Pérez
authors.forename: A
authors.initials: A
authors.lastname: Moreno
authors.forename: A
authors.initials: A
authors.lastname: Corell
authors.forename: M
authors.initials: M
authors.lastname: Carasol
authors.forename: P
authors.initials: P
authors.lastname: Martínez-Canut
authors.forename: A
authors.initials: A
authors.lastname: Arnaiz-Villena
mesh_terms: D000483:Alleles; D020789:Cathepsin C / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010214:Papillon-Lefevre Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology
chemical_list: D004247:DNA; D020789:Cathepsin C