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

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

doi:10.1038/ng.2262

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

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

Molecular & Medical Genetics

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

125 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	639-641
Number of pages	3
Journal	Nature genetics
Volume	44
Issue number	6
DOIs	https://doi.org/10.1038/ng.2262
State	Published - Jun 1 2012

ASJC Scopus subject areas

Genetics

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Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C. H., Cheung, S. W., Gilissen, C., Verwiel, E. T. P., Martens, S., Feuth, T., Bongers, E. M. H. F., De Vries, P., Scheffer, H., Vissers, L. E. L. M., ... De Vries, B. B. A. (2012). Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nature genetics, 44(6), 639-641. https://doi.org/10.1038/ng.2262

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. / Koolen, David A.; Kramer, Jamie M.; Neveling, Kornelia; Nillesen, Willy M.; Moore-Barton, Heather L.; Elmslie, Frances V.; Toutain, Annick; Amiel, Jeanne; Malan, Valérie; Tsai, Anne Chun Hui; Cheung, Sau Wai; Gilissen, Christian; Verwiel, Eugene T.P.; Martens, Sarah; Feuth, Ton; Bongers, Ernie M.H.F.; De Vries, Petra; Scheffer, Hans; Vissers, Lisenka E.L.M.; De Brouwer, Arjan P.M.; Brunner, Han G.; Veltman, Joris A.; Schenck, Annette; Yntema, Helger G.; De Vries, Bert B.A.

In: Nature genetics, Vol. 44, No. 6, 01.06.2012, p. 639-641.

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

Koolen, DA, Kramer, JM, Neveling, K, Nillesen, WM, Moore-Barton, HL, Elmslie, FV, Toutain, A, Amiel, J, Malan, V, Tsai, ACH, Cheung, SW, Gilissen, C, Verwiel, ETP, Martens, S, Feuth, T, Bongers, EMHF, De Vries, P, Scheffer, H, Vissers, LELM, De Brouwer, APM, Brunner, HG, Veltman, JA, Schenck, A, Yntema, HG & De Vries, BBA 2012, 'Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome', Nature genetics, vol. 44, no. 6, pp. 639-641. https://doi.org/10.1038/ng.2262

Koolen, David A. ; Kramer, Jamie M. ; Neveling, Kornelia ; Nillesen, Willy M. ; Moore-Barton, Heather L. ; Elmslie, Frances V. ; Toutain, Annick ; Amiel, Jeanne ; Malan, Valérie ; Tsai, Anne Chun Hui ; Cheung, Sau Wai ; Gilissen, Christian ; Verwiel, Eugene T.P. ; Martens, Sarah ; Feuth, Ton ; Bongers, Ernie M.H.F. ; De Vries, Petra ; Scheffer, Hans ; Vissers, Lisenka E.L.M. ; De Brouwer, Arjan P.M. ; Brunner, Han G. ; Veltman, Joris A. ; Schenck, Annette ; Yntema, Helger G. ; De Vries, Bert B.A. / Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. In: Nature genetics. 2012 ; Vol. 44, No. 6. pp. 639-641.

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abstract = "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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