Allende Martínez, Luis MiguelGarcía Pérez, Miguel ÁngelMoreno, ÁngelCorell, AlfredoCarasol, MiguelMartínez Canut, PedroArnaiz Villena, Antonio2024-02-022024-02-022001-02-01Allende 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: 11180601.1098-100410.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-%23https://hdl.handle.net/20.500.14352/98034Papillon-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.engjournal articlehttps://onlinelibrary.wiley.com/doi/abs/10.1002/1098-1004%28200102%2917%3A2%3C152%3A%3AAID-HUMU10%3E3.0.CO%3B2-%23open access612.017Cathepsin CCTSCPapillon-Lefèvre syndromeHaim-Munk syndromeretinoid therapyCD3 activation pathwayCiencias Biomédicas32 Ciencias Médicas