Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Brazilian Journal of Medical and Biological Research |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030 |
Resumo: | Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene. |
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Brazilian Journal of Medical and Biological Research |
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Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic featuresOFCD syndromeBCOR geneTalon cuspIntrafamilial phenotypic variabilityOculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.Associação Brasileira de Divulgação Científica2012-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030Brazilian Journal of Medical and Biological Research v.45 n.12 2012reponame:Brazilian Journal of Medical and Biological Researchinstname:Associação Brasileira de Divulgação Científica (ABDC)instacron:ABDC10.1590/S0100-879X2012007500150info:eu-repo/semantics/openAccessLozić,B.Ljubković,J.Pandurić,D. GabrićSaltvig,I.Kutsche,K.Krželj,V.Zemunik,T.eng2012-12-14T00:00:00Zoai:scielo:S0100-879X2012001200030Revistahttps://www.bjournal.org/https://old.scielo.br/oai/scielo-oai.phpbjournal@terra.com.br||bjournal@terra.com.br1414-431X0100-879Xopendoar:2012-12-14T00:00Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)false |
dc.title.none.fl_str_mv |
Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features |
title |
Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features |
spellingShingle |
Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features Lozić,B. OFCD syndrome BCOR gene Talon cusp Intrafamilial phenotypic variability |
title_short |
Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features |
title_full |
Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features |
title_fullStr |
Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features |
title_full_unstemmed |
Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features |
title_sort |
Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features |
author |
Lozić,B. |
author_facet |
Lozić,B. Ljubković,J. Pandurić,D. Gabrić Saltvig,I. Kutsche,K. Krželj,V. Zemunik,T. |
author_role |
author |
author2 |
Ljubković,J. Pandurić,D. Gabrić Saltvig,I. Kutsche,K. Krželj,V. Zemunik,T. |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Lozić,B. Ljubković,J. Pandurić,D. Gabrić Saltvig,I. Kutsche,K. Krželj,V. Zemunik,T. |
dc.subject.por.fl_str_mv |
OFCD syndrome BCOR gene Talon cusp Intrafamilial phenotypic variability |
topic |
OFCD syndrome BCOR gene Talon cusp Intrafamilial phenotypic variability |
description |
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene. |
publishDate |
2012 |
dc.date.none.fl_str_mv |
2012-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0100-879X2012007500150 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Brasileira de Divulgação Científica |
publisher.none.fl_str_mv |
Associação Brasileira de Divulgação Científica |
dc.source.none.fl_str_mv |
Brazilian Journal of Medical and Biological Research v.45 n.12 2012 reponame:Brazilian Journal of Medical and Biological Research instname:Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC |
instname_str |
Associação Brasileira de Divulgação Científica (ABDC) |
instacron_str |
ABDC |
institution |
ABDC |
reponame_str |
Brazilian Journal of Medical and Biological Research |
collection |
Brazilian Journal of Medical and Biological Research |
repository.name.fl_str_mv |
Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC) |
repository.mail.fl_str_mv |
bjournal@terra.com.br||bjournal@terra.com.br |
_version_ |
1754302941695574016 |