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oai:docta.ucm.es:20.500.14352/980342025-03-18T14:31:34Zcom_20.500.14352_14col_20.500.14352_15

Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation Allende Martínez, Luis Miguel García Pérez, Miguel Ángel Moreno, Ángel Corell, Alfredo Carasol, Miguel Martínez Canut, Pedro Arnaiz Villena, Antonio 612.017 Cathepsin C CTSC Papillon-Lefèvre syndrome Haim-Munk syndrome retinoid therapy CD3 activation pathway Ciencias Biomédicas 32 Ciencias Médicas 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. Depto. de Inmunología, Oftalmología y ORL Fac. de Medicina TRUE pub 2024-02-02T07:41:00Z 2024-02-02T07:41:00Z 2001-02-01 journal article VoR https://hdl.handle.net/20.500.14352/98034 1098-1004 10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-%23 eng 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. open access application/pdf Wiley