Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
KDM6B
demethylase
lysine
neurodevelopmental
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:
07 2019
07 2019
Historique:
received:
03
01
2019
revised:
29
03
2019
accepted:
01
04
2019
pubmed:
28
5
2019
medline:
9
7
2020
entrez:
25
5
2019
Statut:
ppublish
Résumé
Lysine-specific demethylase 6B (KDM6B) demethylates trimethylated lysine-27 on histone H3. The methylation and demethylation of histone proteins affects gene expression during development. Pathogenic alterations in histone lysine methylation and demethylation genes have been associated with multiple neurodevelopmental disorders. We have identified a number of de novo alterations in the KDM6B gene via whole exome sequencing (WES) in a cohort of 12 unrelated patients with developmental delay, intellectual disability, dysmorphic facial features, and other clinical findings. Our findings will allow for further investigation in to the role of the KDM6B gene in human neurodevelopmental disorders.
Identifiants
pubmed: 31124279
doi: 10.1002/ajmg.a.61173
doi:
Substances chimiques
Jumonji Domain-Containing Histone Demethylases
EC 1.14.11.-
KDM6B protein, human
EC 1.14.11.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1276-1286Informations de copyright
© 2019 Wiley Periodicals, Inc.