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; 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

doi:10.1002/ajmg.a.61173

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

33 Scopus citations

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 language	English (US)
Pages (from-to)	1276-1286
Number of pages	11
Journal	American Journal of Medical Genetics, Part A
Volume	179
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.a.61173
State	Published - Jul 2019

Keywords

KDM6B
demethylase
lysine
neurodevelopmental

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.61173

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Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K., Burton, B., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., ... 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

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title = "Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features",

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.",

keywords = "KDM6B, demethylase, lysine, neurodevelopmental",

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

note = "Publisher Copyright: {\textcopyright} 2019 Wiley Periodicals, Inc.",

year = "2019",

month = jul,

doi = "10.1002/ajmg.a.61173",

language = "English (US)",

volume = "179",

pages = "1276--1286",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

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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

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

Y1 - 2019/7

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.

KW - KDM6B

KW - demethylase

KW - lysine

KW - neurodevelopmental

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DO - 10.1002/ajmg.a.61173

M3 - Article

C2 - 31124279

AN - SCOPUS:85066279759

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 -

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

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Keywords

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