De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

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Title:	De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Author(s):	Hoischen, A. (314344233) Bon, B.W.M. van (314343024) Gilissen, C.F.H.A. (314344136) Arts, P.J.W. Lier, B. van Steehouwer, M. (321517792) Vries, P.F. de (32151792X) Reuver, R. de Wieskamp, N.A.W. (321517938) Mortier, G. Devriendt, K. Amorim, M.Z. Revencu, N. Kidd, A. Barbosa, M. Turner, A. Smith, J. Oley, C. Henderson, A. Hayes, I.M. Thompson, E.M. Brunner, H.G. (112228682) Vries, L.B.A. de (157142396) Veltman, J.A. (18674692X)
Publication year:	2010
Document type:	Article / Letter to editor
Journal:	Nature Genetics
ISSN:	1061-4036
Volume:	vol. 42
Issue:	iss. 6
Start page:	p. 483
End page:	p. 485
Abstract:	Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.
Subject:	IGMD 3: Genomic disorders and inherited multi-system disorders NCMLS 3A: Genetics and epigenetic pathways of disease
Organization:	Human Genetics UMCN Extern
Appears in Collections:	Academic bibliography

Please use this identifier to cite or link to this item: http://hdl.handle.net/2066/88081