BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Mutations in genes encoding subunits of the BAF complex can cause Coffin–Siris and Nicolaides–Baraitser syndromes. Here the authors identify overlapping DNA methylation signatures in individuals with subtypes of these two syndromes that suggest a functional link and can be used to diagnose subjects...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Erfan Aref-Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C. S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David J. Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadikovic
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
Materias:
Science
Q
Acceso en línea:https://doaj.org/article/c8cbaa6df3ca4918a79caee26f70b7d7
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:c8cbaa6df3ca4918a79caee26f70b7d7
record_format dspace
spelling oai:doaj.org-article:c8cbaa6df3ca4918a79caee26f70b7d72021-12-02T16:50:06ZBAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes10.1038/s41467-018-07193-y2041-1723https://doaj.org/article/c8cbaa6df3ca4918a79caee26f70b7d72018-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-07193-yhttps://doaj.org/toc/2041-1723Mutations in genes encoding subunits of the BAF complex can cause Coffin–Siris and Nicolaides–Baraitser syndromes. Here the authors identify overlapping DNA methylation signatures in individuals with subtypes of these two syndromes that suggest a functional link and can be used to diagnose subjects with unclear clinical presentations.Erfan Aref-EshghiEric G. BendRebecca L. HoodLaila C. SchenkelDeanna Alexis CarereRana ChakrabartiSandesh C. S. NagamaniSau Wai CheungPhilippe M. CampeauChitra PrasadVictoria Mok SiuLauren BradyMark A. TarnopolskyDavid J. CallenA. Micheil InnesSusan M. WhiteWendy S. MeschinoAndrew Y. ShuenGuillaume ParéDennis E. BulmanPeter J. AinsworthHanxin LinDavid I. RodenhiserRaoul C. HennekamKym M. BoycottCharles E. SchwartzBekim SadikovicNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Erfan Aref-Eshghi
Eric G. Bend
Rebecca L. Hood
Laila C. Schenkel
Deanna Alexis Carere
Rana Chakrabarti
Sandesh C. S. Nagamani
Sau Wai Cheung
Philippe M. Campeau
Chitra Prasad
Victoria Mok Siu
Lauren Brady
Mark A. Tarnopolsky
David J. Callen
A. Micheil Innes
Susan M. White
Wendy S. Meschino
Andrew Y. Shuen
Guillaume Paré
Dennis E. Bulman
Peter J. Ainsworth
Hanxin Lin
David I. Rodenhiser
Raoul C. Hennekam
Kym M. Boycott
Charles E. Schwartz
Bekim Sadikovic
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
description Mutations in genes encoding subunits of the BAF complex can cause Coffin–Siris and Nicolaides–Baraitser syndromes. Here the authors identify overlapping DNA methylation signatures in individuals with subtypes of these two syndromes that suggest a functional link and can be used to diagnose subjects with unclear clinical presentations.
format article
author Erfan Aref-Eshghi
Eric G. Bend
Rebecca L. Hood
Laila C. Schenkel
Deanna Alexis Carere
Rana Chakrabarti
Sandesh C. S. Nagamani
Sau Wai Cheung
Philippe M. Campeau
Chitra Prasad
Victoria Mok Siu
Lauren Brady
Mark A. Tarnopolsky
David J. Callen
A. Micheil Innes
Susan M. White
Wendy S. Meschino
Andrew Y. Shuen
Guillaume Paré
Dennis E. Bulman
Peter J. Ainsworth
Hanxin Lin
David I. Rodenhiser
Raoul C. Hennekam
Kym M. Boycott
Charles E. Schwartz
Bekim Sadikovic
author_facet Erfan Aref-Eshghi
Eric G. Bend
Rebecca L. Hood
Laila C. Schenkel
Deanna Alexis Carere
Rana Chakrabarti
Sandesh C. S. Nagamani
Sau Wai Cheung
Philippe M. Campeau
Chitra Prasad
Victoria Mok Siu
Lauren Brady
Mark A. Tarnopolsky
David J. Callen
A. Micheil Innes
Susan M. White
Wendy S. Meschino
Andrew Y. Shuen
Guillaume Paré
Dennis E. Bulman
Peter J. Ainsworth
Hanxin Lin
David I. Rodenhiser
Raoul C. Hennekam
Kym M. Boycott
Charles E. Schwartz
Bekim Sadikovic
author_sort Erfan Aref-Eshghi
title BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
title_short BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
title_full BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
title_fullStr BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
title_full_unstemmed BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
title_sort bafopathies’ dna methylation epi-signatures demonstrate diagnostic utility and functional continuum of coffin–siris and nicolaides–baraitser syndromes
publisher Nature Portfolio
publishDate 2018
url https://doaj.org/article/c8cbaa6df3ca4918a79caee26f70b7d7
work_keys_str_mv AT erfanarefeshghi bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT ericgbend bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT rebeccalhood bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT lailacschenkel bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT deannaalexiscarere bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT ranachakrabarti bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT sandeshcsnagamani bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT sauwaicheung bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT philippemcampeau bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT chitraprasad bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT victoriamoksiu bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT laurenbrady bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT markatarnopolsky bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT davidjcallen bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT amicheilinnes bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT susanmwhite bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT wendysmeschino bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT andrewyshuen bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT guillaumepare bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT dennisebulman bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT peterjainsworth bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT hanxinlin bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT davidirodenhiser bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT raoulchennekam bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT kymmboycott bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT charleseschwartz bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
AT bekimsadikovic bafopathiesdnamethylationepisignaturesdemonstratediagnosticutilityandfunctionalcontinuumofcoffinsirisandnicolaidesbaraitsersyndromes
_version_ 1718383124334772224

Ejemplares similares