Filges, Isabel and Shimojima, Keiko and Okamoto, Nobuhiko and Röthlisberger, Benno and Weber, Peter and Huber, Andreas R. and Nishizawa, Tsutomu and Datta, Alexandre N. and Miny, Peter and Yamamoto, Toshiyuki. (2011) Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. Journal of medical genetics, Vol. 48, H. 2. pp. 117-122.
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Official URL: http://edoc.unibas.ch/dok/A6006324
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Abstract
Mutations of the SET binding protein 1 gene (SETBP1) on 18q12.3 have recently been reported to cause Schinzel-Giedion syndrome (SGS). As rare 18q interstitial deletions affecting multiple genes including SETBP1 correlate with a milder phenotype, including minor physical anomalies and developmental and expressive speech delay, mutations in SETBP1 are thought to result in a gain-of-function or a dominant-negative effect. However, the consequence of the SETBP1 loss-of-function has not yet been well described.
| Faculties and Departments: | 03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Neuro- und Entwicklungspädiatrie (Weber) 03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Neuro- und Entwicklungspädiatrie (Weber) 03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey) 03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey) |
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| UniBasel Contributors: | Miny, Peter and Weber, Peter |
| Item Type: | Article, refereed |
| Article Subtype: | Research Article |
| Publisher: | British Medical Association |
| ISSN: | 0022-2593 |
| Note: | Publication type according to Uni Basel Research Database: Journal article |
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| Last Modified: | 27 Feb 2014 15:45 |
| Deposited On: | 27 Feb 2014 15:45 |
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