A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Adolescent
Adult
Catalytic Domain
Child
Child, Preschool
Craniofacial Abnormalities
/ genetics
DNA Helicases
/ chemistry
Developmental Disabilities
/ genetics
Female
Humans
Infant
Intellectual Disability
/ genetics
Male
Mi-2 Nucleosome Remodeling and Deacetylase Complex
/ chemistry
Mutation
Phenotype
Syndrome
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
19
10
2019
accepted:
28
04
2020
revised:
27
02
2020
pubmed:
3
6
2020
medline:
9
6
2021
entrez:
3
6
2020
Statut:
ppublish
Résumé
There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants, including nine outside the ATPase/helicase domain. All patients were detected with unbiased molecular genetic methods. There is not a significant difference in the clinical or facial features of patients with variants in or outside this domain. These additional patients further expand the clinical and molecular data associated with CHD3 variants. Importantly we conclude that there is not a significant difference in the phenotypic features of patients with various molecular disruptions, including whole gene deletions and duplications, and missense variants outside the ATPase/helicase domain. This data will aid both clinical geneticists and molecular geneticists in the diagnosis of this emerging syndrome.
Identifiants
pubmed: 32483341
doi: 10.1038/s41431-020-0654-4
pii: 10.1038/s41431-020-0654-4
pmc: PMC7608102
doi:
Substances chimiques
Mi-2 Nucleosome Remodeling and Deacetylase Complex
EC 3.5.1.98
DNA Helicases
EC 3.6.4.-
CHD3 protein, human
EC 3.6.4.12
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1422-1431Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NIGMS NIH HHS
ID : T32 GM008638
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007301
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG007301
Pays : United States
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