The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Abnormalities, Multiple
/ epidemiology
Adolescent
Child
Child, Preschool
Chromosomal Proteins, Non-Histone
/ genetics
Codon, Nonsense
/ genetics
DNA Helicases
/ genetics
DNA-Binding Proteins
/ genetics
Face
/ abnormalities
Female
Genetic Association Studies
Genetic Predisposition to Disease
Hand Deformities, Congenital
/ epidemiology
Humans
Infant
Intellectual Disability
/ epidemiology
Male
Micrognathism
/ epidemiology
Neck
/ abnormalities
Nuclear Proteins
/ genetics
Phenotype
Transcription Factors
/ genetics
BAF complex
Coffin-Siris syndrome
SMARCA4
intellectual disability
nonsense variants
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
26
09
2019
revised:
13
05
2020
accepted:
19
05
2020
pubmed:
21
7
2020
medline:
9
6
2021
entrez:
21
7
2020
Statut:
ppublish
Résumé
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 developmental differences, coarse facial features, hypertrichosis, and underdevelopment of the fifth digits/nails of the hands and feet. Individuals with SMARCA4 variants have been previously reported and appear to display a variable phenotype. We describe here a cohort of 15 unrelated individuals with SMARCA4 variants 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.
Identifiants
pubmed: 32686290
doi: 10.1002/ajmg.a.61732
doi:
Substances chimiques
BANF1 protein, human
0
Chromosomal Proteins, Non-Histone
0
Codon, Nonsense
0
DNA-Binding Proteins
0
Nuclear Proteins
0
SWI-SNF-B chromatin-remodeling complex
0
Transcription Factors
0
SMARCA4 protein, human
EC 3.6.1.-
DNA Helicases
EC 3.6.4.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2058-2067Informations de copyright
© 2020 Wiley Periodicals LLC.
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