TY - JOUR
T1 - Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features
AU - Stolerman, Elliot S.
AU - Francisco, Elizabeth
AU - Stallworth, Jennifer L.
AU - Jones, Julie R.
AU - Monaghan, Kristin G.
AU - Keller-Ramey, Jennifer
AU - Person, Richard
AU - Wentzensen, Ingrid M.
AU - McWalter, Kirsty
AU - Keren, Boris
AU - Heron, Benedicte
AU - Nava, Caroline
AU - Heron, Delphine
AU - Kim, Katherine
AU - Burton, Barbara
AU - Al-Musafri, Fatima
AU - O'Grady, Lauren
AU - Sahai, Inderneel
AU - Escobar, Luis F.
AU - Meuwissen, Marije
AU - Reyniers, Edwin
AU - Kooy, Frank
AU - Lacassie, Yves
AU - Gunay-Aygun, Meral
AU - Schatz, Krista Sondergaard
AU - Hochstenbach, Ron
AU - Zwijnenburg, Petra J. G.
AU - Waisfisz, Quinten
AU - van Slegtenhorst, Marjon
AU - Mancini, Grazia M. S.
AU - Louie, Raymond J.
PY - 2019/7/1
Y1 - 2019/7/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066279759&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/31124279
U2 - https://doi.org/10.1002/ajmg.a.61173
DO - https://doi.org/10.1002/ajmg.a.61173
M3 - Article
C2 - 31124279
SN - 1552-4825
VL - 179
SP - 1276
EP - 1286
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -