Journal article
The variability ofSMARCA4-relatedCoffin-Sirissyndrome: Do nonsense candidate variants add to milder phenotypes?
American journal of medical genetics. Part A, Vol.182(9), pp.2058-2067
09/01/2020
DOI: 10.1002/ajmg.a.61732
PMID: 32686290
Abstract
SMARCA4encodes 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 developmental differences, coarse facial features, hypertrichosis, and underdevelopment of the fifth digits/nails of the hands and feet. Individuals withSMARCA4variants have been previously reported and appear to display a variable phenotype. We describe here a cohort of 15 unrelated individuals withSMARCA4variants from the Coffin-Siris syndrome/BAF pathway disorders registry who further display variability in severity and degrees of learning impairment and health issues. Within this cohort, we also report two individuals with novel nonsense variants who appear to have a phenotype of milder learning/behavioral differences and no organ-system involvement.
Details
- Title: Subtitle
- The variability ofSMARCA4-relatedCoffin-Sirissyndrome: Do nonsense candidate variants add to milder phenotypes?
- Creators
- Dong Li - Center for Applied GenomicsRebecca C. Ahrens-Nicklas - Children's Hospital of PhiladelphiaJanice Baker - Children’s Minnesota - St. Paul HospitalVikas Bhambhani - Children’s Minnesota - St. Paul HospitalAmy Calhoun - University of IowaJulie S. Cohen - Kennedy Krieger InstituteMatthew A. Deardorff - Children's Hospital of PhiladelphiaAlberto Fernandez-Jaen - Hospital Universitario Quirónsalud MadridBenjamin Kamien - King Edward Memorial HospitalMahim Jain - Kennedy Krieger InstituteFiona Mckenzie - King Edward Memorial HospitalMark Mintz - CNNH NeuroHealth and the Clinical Research Center of New Jersey Voorhees New Jersey USAConstance Motter - Akron Children's HospitalKirsten Niles - Hospital for Sick ChildrenAlyssa Ritter - Children's Hospital of PhiladelphiaCurtis Rogers - Greenwood Genetic CenterMaian Roifman - Hospital for Sick ChildrenSharron Townshend - King Edward Memorial HospitalCatherine Ward-Melver - Akron Children's HospitalSamantha A. Schrier Vergano - Children's Hospital of The King's Daughters
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.182(9), pp.2058-2067
- Publisher
- Wiley
- DOI
- 10.1002/ajmg.a.61732
- PMID
- 32686290
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Number of pages
- 10
- Grant note
- Neurim Pharmaceuticals Eisai Inc.; Eisai Co Ltd Impax Laboratories; Randox Laboratories Sunovion Coffin-Siris Syndrome Foundation Curemark PhenoSolve Aquestive Therapeutics Nuvelution Pharma Inc. Teva; Teva Pharmaceutical Industries
- Language
- English
- Date published
- 09/01/2020
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984354156002771
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