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

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dc.contributor.authorAllende Martínez, Luis Miguel
dc.contributor.authorGarcía Pérez, Miguel Ángel
dc.contributor.authorMoreno, Ángel
dc.contributor.authorCorell, Alfredo
dc.contributor.authorCarasol, Miguel
dc.contributor.authorMartínez Canut, Pedro
dc.contributor.authorArnaiz Villena, Antonio
dc.date.accessioned2024-02-02T07:41:00Z
dc.date.available2024-02-02T07:41:00Z
dc.date.issued2001-02-01
dc.description.abstractPapillon-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.
dc.description.departmentDepto. de Inmunología, Oftalmología y ORL
dc.description.facultyFac. de Medicina
dc.description.refereedTRUE
dc.description.statuspub
dc.identifier.citationAllende 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.
dc.identifier.doi10.1002/1098-1004(200102)17:2<152::AID-HUMU10>3.0.CO;2-%23
dc.identifier.issn1098-1004
dc.identifier.officialurlhttps://onlinelibrary.wiley.com/doi/abs/10.1002/1098-1004%28200102%2917%3A2%3C152%3A%3AAID-HUMU10%3E3.0.CO%3B2-%23
dc.identifier.urihttps://hdl.handle.net/20.500.14352/98034
dc.journal.titleHuman Mutation: Variation, Informatics and Disease
dc.language.isoeng
dc.page.final153
dc.page.initial152
dc.publisherWiley
dc.rights.accessRightsopen access
dc.subject.cdu612.017
dc.subject.keywordCathepsin C
dc.subject.keywordCTSC
dc.subject.keywordPapillon-Lefèvre syndrome
dc.subject.keywordHaim-Munk syndrome
dc.subject.keywordretinoid therapy
dc.subject.keywordCD3 activation pathway
dc.subject.ucmCiencias Biomédicas
dc.subject.unesco32 Ciencias Médicas
dc.titleCathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
dc.typejournal article
dc.type.hasVersionVoR
dc.volume.number17
dspace.entity.typePublication
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