Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/65275
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Type: Journal article
Title: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Author: Hoischen, A.
Van Bon, B.
Gilissen, C.
Arts, P.
van Lier, B.
Steehouwer, M.
de Vries, P.
de Reuver, R.
Wieskamp, N.
Mortier, G.
Devriendt, K.
Amorim, M.
Revencu, N.
Kidd, A.
Barbosa, M.
Turner, A.
Smith, J.
Olay, C.
Henderson, A.
Hayes, I.
et al.
Citation: Nature Genetics, 2010; 42(6):483-485
Publisher: Nature Publishing Group
Issue Date: 2010
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Alexander Hoischen, Bregje W M van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier, Koen Devriendt, Marta Z Amorim, Nicole Revencu, Alexa Kidd, Mafalda Barbosa, Anne Turner, Janine Smith, Christina Oley, Alex Henderson, Ian M Hayes, Elizabeth M Thompson, Han G Brunner, Bert B A de Vries & Joris A Veltman
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.
Keywords: Face; Humans; Abnormalities, Multiple; Syndrome; Carrier Proteins; Nuclear Proteins; Base Sequence; Mutation; Molecular Sequence Data; Intellectual Disability
RMID: 0020097398
DOI: 10.1038/ng.581
Appears in Collections:Paediatrics publications

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