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

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 P...

Descripción completa

Detalles Bibliográficos
Autores: Allende Martínez, Luis Miguel, García Pérez, Miguel Ángel, Moreno, Ángel, Corell, Alfredo, Carasol, Miguel, Martínez Canut, Pedro, Arnaiz Villena, Antonio
Tipo de recurso: artículo
Fecha de publicación:2001
País:España
Institución:Universidad Complutense de Madrid (UCM)
Repositorio:Docta Complutense
Idioma:inglés
OAI Identifier:oai:docta.ucm.es:20.500.14352/98034
Acceso en línea:https://hdl.handle.net/20.500.14352/98034
Access Level:acceso abierto
Palabra clave:612.017
Cathepsin C
CTSC
Papillon-Lefèvre syndrome
Haim-Munk syndrome
retinoid therapy
CD3 activation pathway
Ciencias Biomédicas
32 Ciencias Médicas
id ES_545f178ce1dca32cb67a5dd4ea79af4a
oai_identifier_str oai:docta.ucm.es:20.500.14352/98034
network_acronym_str ES
network_name_str España
repository_id_str
spelling Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutationAllende Martínez, Luis MiguelGarcía Pérez, Miguel ÁngelMoreno, ÁngelCorell, AlfredoCarasol, MiguelMartínez Canut, PedroArnaiz Villena, Antonio612.017Cathepsin CCTSCPapillon-Lefèvre syndromeHaim-Munk syndromeretinoid therapyCD3 activation pathwayCiencias Biomédicas32 Ciencias MédicasPapillon-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.WileyUniversidad Complutense de Madrid20012001-02-0120012001-02-01journal articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.14352/98034reponame:Docta Complutenseinstname:Universidad Complutense de Madrid (UCM)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:docta.ucm.es:20.500.14352/980342026-06-02T12:44:21Z
dc.title.none.fl_str_mv Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
title Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
spellingShingle Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
Allende Martínez, Luis Miguel
612.017
Cathepsin C
CTSC
Papillon-Lefèvre syndrome
Haim-Munk syndrome
retinoid therapy
CD3 activation pathway
Ciencias Biomédicas
32 Ciencias Médicas
title_short Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
title_full Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
title_fullStr Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
title_full_unstemmed Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
title_sort Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
dc.creator.none.fl_str_mv Allende Martínez, Luis Miguel
García Pérez, Miguel Ángel
Moreno, Ángel
Corell, Alfredo
Carasol, Miguel
Martínez Canut, Pedro
Arnaiz Villena, Antonio
author Allende Martínez, Luis Miguel
author_facet Allende Martínez, Luis Miguel
García Pérez, Miguel Ángel
Moreno, Ángel
Corell, Alfredo
Carasol, Miguel
Martínez Canut, Pedro
Arnaiz Villena, Antonio
author_role author
author2 García Pérez, Miguel Ángel
Moreno, Ángel
Corell, Alfredo
Carasol, Miguel
Martínez Canut, Pedro
Arnaiz Villena, Antonio
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidad Complutense de Madrid
dc.subject.none.fl_str_mv 612.017
Cathepsin C
CTSC
Papillon-Lefèvre syndrome
Haim-Munk syndrome
retinoid therapy
CD3 activation pathway
Ciencias Biomédicas
32 Ciencias Médicas
topic 612.017
Cathepsin C
CTSC
Papillon-Lefèvre syndrome
Haim-Munk syndrome
retinoid therapy
CD3 activation pathway
Ciencias Biomédicas
32 Ciencias Médicas
description 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.
publishDate 2001
dc.date.none.fl_str_mv 2001
2001-02-01
2001
2001-02-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/20.500.14352/98034
url https://hdl.handle.net/20.500.14352/98034
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Docta Complutense
instname:Universidad Complutense de Madrid (UCM)
instname_str Universidad Complutense de Madrid (UCM)
reponame_str Docta Complutense
collection Docta Complutense
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869408180142866432
score 15,301629

Similares en LA Referencia