Title |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
|
---|---|
Published in |
Nature Genetics, May 2010
|
DOI | 10.1038/ng.581 |
Pubmed ID | |
Authors |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 2 | 22% |
United States | 2 | 22% |
Canada | 1 | 11% |
Australia | 1 | 11% |
France | 1 | 11% |
Unknown | 2 | 22% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 5 | 56% |
Members of the public | 3 | 33% |
Science communicators (journalists, bloggers, editors) | 1 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 10 | 3% |
United States | 5 | 1% |
Germany | 3 | <1% |
Netherlands | 3 | <1% |
Belgium | 3 | <1% |
Italy | 1 | <1% |
Canada | 1 | <1% |
Brazil | 1 | <1% |
Estonia | 1 | <1% |
Other | 1 | <1% |
Unknown | 341 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 86 | 23% |
Student > Ph. D. Student | 84 | 23% |
Student > Master | 46 | 12% |
Student > Bachelor | 31 | 8% |
Other | 20 | 5% |
Other | 75 | 20% |
Unknown | 28 | 8% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 136 | 37% |
Medicine and Dentistry | 86 | 23% |
Biochemistry, Genetics and Molecular Biology | 68 | 18% |
Computer Science | 12 | 3% |
Neuroscience | 11 | 3% |
Other | 17 | 5% |
Unknown | 40 | 11% |