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https://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 |
DOI: | 10.1038/ng.581 |
Published version: | http://dx.doi.org/10.1038/ng.581 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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