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 Meuwissen & 11 others Edwin 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

Research output: Contribution to journalArticle

Abstract

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
Volume179
Issue number7
DOIs
StatePublished - Jul 1 2019

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Histones
Lysine
Methylation
Genes
Exome
Intellectual Disability
Gene Expression
Proteins
Neurodevelopmental Disorders

Keywords

  • demethylase
  • KDM6B
  • lysine
  • neurodevelopmental

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., ... Louie, R. J. (2019). Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. American Journal of Medical Genetics, Part A, 179(7), 1276-1286. https://doi.org/10.1002/ajmg.a.61173

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. / Stolerman, Elliot S.; Francisco, Elizabeth; Stallworth, Jennifer L.; Jones, Julie R.; Monaghan, Kristin G.; Keller-Ramey, Jennifer; Person, Richard; Wentzensen, Ingrid M.; McWalter, Kirsty; Keren, Boris; Heron, Benedicte; Nava, Caroline; Heron, Delphine; Kim, Katherine; Burton, Barbara; Al-Musafri, Fatima; O'Grady, Lauren; Sahai, Inderneel; Escobar, Luis F.; Meuwissen, Marije; Reyniers, Edwin; Kooy, Frank; Lacassie, Yves; Gunay-Aygun, Meral; Schatz, Krista Sondergaard; Hochstenbach, Ron; Zwijnenburg, Petra J.G.; Waisfisz, Quinten; van Slegtenhorst, Marjon; Mancini, Grazia M.S.; Louie, Raymond J.

In: American Journal of Medical Genetics, Part A, Vol. 179, No. 7, 01.07.2019, p. 1276-1286.

Research output: Contribution to journalArticle

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, RJ 2019, 'Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features', American Journal of Medical Genetics, Part A, vol. 179, no. 7, pp. 1276-1286. https://doi.org/10.1002/ajmg.a.61173
Stolerman, Elliot S. ; Francisco, Elizabeth ; Stallworth, Jennifer L. ; Jones, Julie R. ; Monaghan, Kristin G. ; Keller-Ramey, Jennifer ; Person, Richard ; Wentzensen, Ingrid M. ; McWalter, Kirsty ; Keren, Boris ; Heron, Benedicte ; Nava, Caroline ; Heron, Delphine ; Kim, Katherine ; Burton, Barbara ; Al-Musafri, Fatima ; O'Grady, Lauren ; Sahai, Inderneel ; Escobar, Luis F. ; Meuwissen, Marije ; Reyniers, Edwin ; Kooy, Frank ; Lacassie, Yves ; Gunay-Aygun, Meral ; Schatz, Krista Sondergaard ; Hochstenbach, Ron ; Zwijnenburg, Petra J.G. ; Waisfisz, Quinten ; van Slegtenhorst, Marjon ; Mancini, Grazia M.S. ; Louie, Raymond J. / Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features. In: American Journal of Medical Genetics, Part A. 2019 ; Vol. 179, No. 7. pp. 1276-1286.
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