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

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Title:	Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Author(s):	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.; Cheung, S.W.; Gilissen, C.F.H.A. ; Verwiel, E.T.P. ; Martens, S.; Feuth, T. ; Bongers, M.H.F. ; Vries, P.F. de ; Scheffer, H. ; Vissers, L.E.L.M. ; Brouwer, A.P.M. de ; Brunner, H.G. ; Veltman, J.A. ; Schenck, A. ; Yntema, H.G. ; Vries, L.B.A. de
Publication year:	2012
Source:	Nature Genetics, vol. 44, iss. 6, (2012), pp. 639-641
ISSN:	1061-4036
DOI:	https://doi.org/10.1038/ng.2262
Annotation:	1 juni 2012
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/108784
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Subject:	IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 3: Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory IGMD 9: Renal disorder NCEBP 2: Evaluation of complex medical interventions NCMLS 6: Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory NCMLS 6: Genetics and epigenetic pathways of disease IGMD 3: Genomic disorders and inherited multi-system disorders
Organization:	Human Genetics Health Evidence
Former Organization:	Epidemiology, Biostatistics & HTA
Journal title:	Nature Genetics
Volume:	vol. 44
Issue:	iss. 6
Page start:	p. 639
Page end:	p. 641
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.