Nature Genetics

, volume 44 , issue 6 , pages 639-641

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

David A. Koolen ^{1, 2, 3}

Jamie M. Kramer ^{1, 2, 4}

Kornelia Neveling ^{1, 2, 3}

Willy M. Nillesen ^{1, 2, 3}

Heather L. Moore-Barton ⁵

Frances V Elmslie ⁵

Annick Toutain ⁶

Jeanne Amiel ^{7, 8}

Valerie Malan ^{7, 8}

Anne Chun-Hui Tsai ⁹

Sau Wai Cheung ¹⁰

Christian Gilissen ^{1, 2, 3}

Eugene T P Verwiel ^{1, 2, 3}

Sarah Martens ^{1, 2, 3}

Ton Feuth ¹¹

Ernie M.H.F. Bongers ^{1, 2, 3}

Petra de Vries ^{1, 2, 3}

Hans Scheffer ^{1, 2, 3}

Lisenka E.L.M. Vissers ^{1, 2, 3}

Arjan P.M. de Brouwer ^{1, 2, 3, 4}

Han G. Brunner ^{1, 2, 3}

Joris A. Veltman ^{1, 2, 3}

Annette Schenck ^{1, 2, 4}

Helger G. Yntema ^{1, 2, 3}

Bert B. A. de Vries ^{1, 2, 3, 4}

Hide authors affiliations Show authors affiliations: 11 affiliations

Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands |

Nijmegen Center for Molecular Life Sciences, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands |

Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands |

⁴

Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands |

⁵

South West Thames Regional Genetics Service, St George's University of London, London, UK |

⁶

Service de Génétique, Centre Hospitalier Régional et Universitaire (CHRU) Hôpital Bretonneau, Tours, France |

⁷

Département de Génétique, Hôpital Necker–Enfants Malades, Paris, France |

⁸

Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Université Paris Descartes–Sorbonne Paris Cité, Institut Imagine, Paris, France

Paris Cité University

French Institute of Health and Medical Research

⁹

Section of Clinical Genetics and Metabolism, The Children's Hospital Colorado, University of Colorado Denver, Aurora, USA

University of Colorado Denver

Children's Hospital Colorado

¹⁰

Department of Molecular and Human Genetics, Medical Genetics Laboratories, Baylor College of Medicine, Houston, USA |

¹¹

Department of Epidemiology, Biostatistics and Health Technology Assessment, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands |

Publication type: Journal Article

Publication date: 2012-04-29

Springer Nature

Nature Genetics

scimago Q1

wos Q1

SJR: 16.586

CiteScore: 45.1

Impact factor: 29.0

ISSN: 10614036, 15461718

DOI: 10.1038/ng.2262

Copy DOI

PubMed ID: 22544363

Genetics

Abstract

Bert DeVries and colleagues identify mutations in the chromatin regulator KANSL1 in 17q21.31 microdeletion syndrome. This syndrome is characterized by intellectual disability, hypotonia and distinctive facial features. We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The KANSL1 protein is an evolutionarily conserved regulator of the chromatin modifier KAT8, which influences gene expression through histone H4 lysine 16 (H4K16) acetylation. RNA sequencing studies in cell lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for KANSL1 in neuronal processes.

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Cite this

GOST |

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GOST Copy

Koolen D. A. et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome // Nature Genetics. 2012. Vol. 44. No. 6. pp. 639-641.

GOST all authors (up to 50) Copy

Koolen D. A. et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome // Nature Genetics. 2012. Vol. 44. No. 6. pp. 639-641.

RIS |

Cite this

RIS Copy

TY - JOUR

DO - 10.1038/ng.2262

UR - https://doi.org/10.1038/ng.2262

TI - Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

T2 - Nature Genetics

AU - Koolen, David A.

AU - Kramer, Jamie M.

AU - Neveling, Kornelia

AU - Nillesen, Willy M.

AU - Moore-Barton, Heather L.

AU - Elmslie, Frances V

AU - Toutain, Annick

AU - Amiel, Jeanne

AU - Malan, Valerie

AU - Tsai, Anne Chun-Hui

AU - Cheung, Sau Wai

AU - Gilissen, Christian

AU - Verwiel, Eugene T P

AU - Martens, Sarah

AU - Feuth, Ton

AU - Bongers, Ernie M.H.F.

AU - de Vries, Petra

AU - Scheffer, Hans

AU - Vissers, Lisenka E.L.M.

AU - de Brouwer, Arjan P.M.

AU - Brunner, Han G.

AU - Veltman, Joris A.

AU - Schenck, Annette

AU - Yntema, Helger G.

AU - de Vries, Bert B. A.

PY - 2012

DA - 2012/04/29

PB - Springer Nature

SP - 639-641

IS - 6

VL - 44

PMID - 22544363

SN - 1061-4036

SN - 1546-1718

ER -

BibTex |

Cite this

BibTex (up to 50 authors) Copy

@article{2012_Koolen,

author = {David A. Koolen and Jamie M. Kramer and Kornelia Neveling and Willy M. Nillesen and Heather L. Moore-Barton and Frances V Elmslie and Annick Toutain and Jeanne Amiel and Valerie Malan and Anne Chun-Hui Tsai and Sau Wai Cheung and Christian Gilissen and Eugene T P Verwiel and Sarah Martens and Ton Feuth and Ernie M.H.F. Bongers and Petra de Vries and Hans Scheffer and Lisenka E.L.M. Vissers and Arjan P.M. de Brouwer and Han G. Brunner and Joris A. Veltman and Annette Schenck and Helger G. Yntema and Bert B. A. de Vries and others},

title = {Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome},

journal = {Nature Genetics},

year = {2012},

volume = {44},

publisher = {Springer Nature},

month = {apr},

url = {https://doi.org/10.1038/ng.2262},

number = {6},

pages = {639--641},

doi = {10.1038/ng.2262}

}

MLA

Cite this

MLA Copy

Koolen, David A., et al. “Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.” Nature Genetics, vol. 44, no. 6, Apr. 2012, pp. 639-641. https://doi.org/10.1038/ng.2262.

Publisher

Springer Nature

Journal

Nature Genetics

scimago Q1

wos Q1

SJR

16.586

CiteScore

45.1

Impact factor

29.0

ISSN

10614036 (Print)

15461718 (Electronic)