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The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

American journal of medical genetics. Part A - 1 Sept 2020

Li Dong, Ahrens-Nicklas Rebecca C, Baker Janice, Bhambhani Vikas, Calhoun Amy, Cohen Julie S, Deardorff Matthew A, Fernández-Jaén Alberto, Kamien Benjamin, Jain Mahim, Mckenzie Fiona, Mintz Mark, Motter Constance, Niles Kirsten, Ritter Alyssa, Rogers Curtis, Roifman Maian, Townshend Sharron, Ward-Melver Catherine, Schrier Vergano Samantha A

Abstract excerpt

SMARCA4 encodes a central ATPase subunit in the BRG1-/BRM-associated factors (BAF) or polybromo-associated BAF (PBAF) complex in humans, which is responsible in part for chromatin remodeling and transcriptional regulation. Variants in this and other genes encoding BAF/PBAF complexes have been implicated in Coffin-Siris Syndrome, a multiple congenital anomaly syndrome classically characterized by learning and...

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Abnormalities, Multiple
Chromosomal Proteins, Non-Histone
Codon, Nonsense
DNA Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hand Deformities, Congenital

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PMID: 32686290
DOI: 10.1002/ajmg.a.61732

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