Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Elliot S. Stolerman*, Elizabeth Francisco, Jennifer L. Stallworth, Julie R. Jones, Kristin G. Monaghan, Jennifer Keller-Ramey, Richard Person, Ingrid M. Wentzensen, Kirsty McWalter, Boris Keren, Benedicte Heron, Caroline Nava, Delphine Heron, Katherine Kim, Barbara Burton, Fatima Al-Musafri, Lauren O'Grady, Inderneel Sahai, Luis F. Escobar, Marije MeuwissenEdwin Reyniers, Frank Kooy, Yves Lacassie, Meral Gunay-Aygun, Krista Sondergaard Schatz, Ron Hochstenbach, Petra J.G. Zwijnenburg, Quinten Waisfisz, Marjon van Slegtenhorst, Grazia M.S. Mancini, Raymond J. Louie

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1276-1286
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
StatePublished - Jul 2019


  • KDM6B
  • demethylase
  • lysine
  • neurodevelopmental

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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