Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. Am J Med Genet A 2019 Jul;179(7):1276-1286
Date
05/28/2019Pubmed ID
31124279DOI
10.1002/ajmg.a.61173Scopus ID
2-s2.0-85066279759 (requires institutional sign-in at Scopus site) 30 CitationsAbstract
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.
Author List
Stolerman ES, Francisco E, Stallworth JL, Jones JR, Monaghan KG, Keller-Ramey J, Person R, Wentzensen IM, McWalter K, Keren B, Heron B, Nava C, Heron D, Kim K, Burton B, Al-Musafri F, O'Grady L, Sahai I, Escobar LF, Meuwissen M, Reyniers E, Kooy F, Lacassie Y, Gunay-Aygun M, Schatz KS, Hochstenbach R, Zwijnenburg PJG, Waisfisz Q, van Slegtenhorst M, Mancini GMS, Louie RJAuthor
Test W. User test user title in the Anesthesiology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentChild, Preschool
Cohort Studies
Female
Genetic Variation
Humans
Jumonji Domain-Containing Histone Demethylases
Male
Neurodevelopmental Disorders
