Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease

Cherubism is classified within the group of benign osteo-fibrous lesions. Aside from facial deformities, it may account for major complications. It has been observed that the disease is caused by a mutation in the gene SH3BP2 (SH3-domain binding protein 2), which is located at chromosome 4pl6.3. Her...

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Detalles Bibliográficos
Autores: Pérez Sayáns, Mario, Barros Angueira, Francisco, Suárez Peñaranda, Jose Manuel, García García, Abel
Tipo de recurso: artículo
Fecha de publicación:2013
País:España
Institución:Servizo Galego de Saúde (SERGAS)
Repositorio:RUNA. Repositorio da Consellería de Sanidade e Sergas
OAI Identifier:oai:runa.sergas.gal:20.500.11940/3693
Acceso en línea:http://hdl.handle.net/20.500.11940/3693
Access Level:acceso abierto
Palabra clave:Adaptor Proteins, Signal Transducing
Cherubism
Genes, Dominant
Mutation, Missense
Proteínas Adaptadoras Transductoras de Señales
Genes Dominantes
Mutación Missense
Querubismo
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spelling Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the diseasePérez Sayáns, MarioBarros Angueira, FranciscoSuárez Peñaranda, Jose ManuelGarcía García, AbelAdaptor Proteins, Signal TransducingCherubismGenes, DominantMutation, MissenseProteínas Adaptadoras Transductoras de SeñalesGenes DominantesMutación MissenseQuerubismoCherubism is classified within the group of benign osteo-fibrous lesions. Aside from facial deformities, it may account for major complications. It has been observed that the disease is caused by a mutation in the gene SH3BP2 (SH3-domain binding protein 2), which is located at chromosome 4pl6.3. Here we present two cases of familial cherubism, uncle and nephew, with variable clinical involvement ("Expressivity"), and one case of a woman (sister and mother, respectively), who transmitted cherubism without suffering the disease. In this article we have shown that, in familial cherubism cases, the mutation is inherited through an autosomal dominant transmission. Mutations affecting gene SH3BP2 cause variable clinical involvement (variable expressivity), involvement can be moderate, severe or may result merely in asymptomatic carriers. Since the possibility of transmission reaches 50% of chances, we believe that it is important to develop genetic counseling for both patients and carriers, in order to prevent or minimize new affected offspring.2013info:eu-repo/semantics/articlehttp://hdl.handle.net/20.500.11940/3693reponame:RUNA. Repositorio da Consellería de Sanidade e Sergasinstname:Servizo Galego de Saúde (SERGAS)Ingléshttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:runa.sergas.gal:20.500.11940/36932026-06-12T08:40:47Z
dc.title.none.fl_str_mv Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease
title Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease
spellingShingle Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease
Pérez Sayáns, Mario
Adaptor Proteins, Signal Transducing
Cherubism
Genes, Dominant
Mutation, Missense
Proteínas Adaptadoras Transductoras de Señales
Genes Dominantes
Mutación Missense
Querubismo
title_short Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease
title_full Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease
title_fullStr Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease
title_full_unstemmed Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease
title_sort Variable expressivity familial cherubism: Woman transmitting cherubism without suffering the disease
dc.creator.none.fl_str_mv Pérez Sayáns, Mario
Barros Angueira, Francisco
Suárez Peñaranda, Jose Manuel
García García, Abel
author Pérez Sayáns, Mario
author_facet Pérez Sayáns, Mario
Barros Angueira, Francisco
Suárez Peñaranda, Jose Manuel
García García, Abel
author_role author
author2 Barros Angueira, Francisco
Suárez Peñaranda, Jose Manuel
García García, Abel
author2_role author
author
author
dc.subject.none.fl_str_mv Adaptor Proteins, Signal Transducing
Cherubism
Genes, Dominant
Mutation, Missense
Proteínas Adaptadoras Transductoras de Señales
Genes Dominantes
Mutación Missense
Querubismo
topic Adaptor Proteins, Signal Transducing
Cherubism
Genes, Dominant
Mutation, Missense
Proteínas Adaptadoras Transductoras de Señales
Genes Dominantes
Mutación Missense
Querubismo
description Cherubism is classified within the group of benign osteo-fibrous lesions. Aside from facial deformities, it may account for major complications. It has been observed that the disease is caused by a mutation in the gene SH3BP2 (SH3-domain binding protein 2), which is located at chromosome 4pl6.3. Here we present two cases of familial cherubism, uncle and nephew, with variable clinical involvement ("Expressivity"), and one case of a woman (sister and mother, respectively), who transmitted cherubism without suffering the disease. In this article we have shown that, in familial cherubism cases, the mutation is inherited through an autosomal dominant transmission. Mutations affecting gene SH3BP2 cause variable clinical involvement (variable expressivity), involvement can be moderate, severe or may result merely in asymptomatic carriers. Since the possibility of transmission reaches 50% of chances, we believe that it is important to develop genetic counseling for both patients and carriers, in order to prevent or minimize new affected offspring.
publishDate 2013
dc.date.none.fl_str_mv 2013
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/20.500.11940/3693
url http://hdl.handle.net/20.500.11940/3693
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv reponame:RUNA. Repositorio da Consellería de Sanidade e Sergas
instname:Servizo Galego de Saúde (SERGAS)
instname_str Servizo Galego de Saúde (SERGAS)
reponame_str RUNA. Repositorio da Consellería de Sanidade e Sergas
collection RUNA. Repositorio da Consellería de Sanidade e Sergas
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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