New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Abstract Background Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associa...

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Bibliographic Details
Main Authors: Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genomics
Subjects:
SMARCA2
NCBRS
DNA methylation
Signature
Epigenomics
Chromatin remodeling
Online Access:http://link.springer.com/article/10.1186/s12920-019-0555-y

Internet

http://link.springer.com/article/10.1186/s12920-019-0555-y

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