RT Journal Article
T1 Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
A1 Allende Martínez, Luis Miguel
A1 García Pérez, Miguel Ángel
A1 Moreno, Ángel
A1 Corell, Alfredo
A1 Carasol, Miguel
A1 Martínez Canut, Pedro
A1 Arnaiz Villena, Antonio
AB 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.
PB Wiley
SN 1098-1004
YR 2001
FD 2001-02-01
LK https://hdl.handle.net/20.500.14352/98034
UL https://hdl.handle.net/20.500.14352/98034
LA eng
NO Allende LM, García-Pérez MA, Moreno A, Corell A, Carasol M, Martínez-Canut P, Arnaiz-Villena A. Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation. Hum Mutat. 2001 Feb;17(2):152-3. doi: 10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-#. PMID: 11180601.
DS Docta Complutense
RD 7 oct 2024