De novo variants in
Adolescent
Agenesis of Corpus Callosum
/ genetics
Brain
/ diagnostic imaging
Cell Cycle Proteins
/ genetics
Child
Child, Preschool
Corpus Callosum
/ physiopathology
Exome
/ genetics
Female
Genetic Predisposition to Disease
Humans
Intellectual Disability
/ genetics
Male
Mutation, Missense
/ genetics
Neurodevelopmental Disorders
/ genetics
Seizures
/ genetics
Transcription Factors
/ genetics
Exome Sequencing
developmental
genetics
other neurology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
01
04
2019
revised:
29
10
2019
accepted:
17
11
2019
pubmed:
12
1
2020
medline:
22
6
2021
entrez:
12
1
2020
Statut:
ppublish
Résumé
Whole-exome sequencing (WES) has identified de novo variants in chromatin remodelling genes in patients with neurodevelopmental disorders (NDD). We report on a novel genetic discovery in chromatin remodelling in patients with NDD who also have corpus callosum (CC) anomalies. To discover novel genes linked to both CC anomalies and NDD. Clinical WES was performed for evaluation of NDD, identifying five patients with de novo variants in We identified four patients with de novo missense variants in Our findings implicate the gene
Identifiants
pubmed: 31924697
pii: jmedgenet-2019-106193
doi: 10.1136/jmedgenet-2019-106193
pmc: PMC9491690
mid: NIHMS1835093
doi:
Substances chimiques
Cell Cycle Proteins
0
SUPT16H protein, human
0
Transcription Factors
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
461-465Subventions
Organisme : NINDS NIH HHS
ID : R01 NS058721
Pays : United States
Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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