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Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology. (Clin Mol Genet)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology. (Clin Mol Genet)
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1999 (English)In: European Journal of Human Genetics, ISSN 1018-4813, Vol. 7, no 5, 541-8 p.Article in journal (Refereed) Published
Abstract [en]

Non-specific X-linked mental retardation is a heterogeneous group of disorders with an incidence of approximately 1 in 500 males. A recently identified gene in Xq12, encoding a Rho-GTPase-activating protein, was found to be mutated in individuals with mental retardation. We describe here two sisters with a 46,XY karyotype and a microdeletion of the oligophrenin-1 gene and 1.1 Mb of flanking DNA. We have characterised the molecular interval defining this microdeletion syndrome with the fibre-FISH technique. A visual physical map of 1.2 Mb was constructed which spans the oligophrenin-1 gene and the androgen receptor gene. The analysis of the patients revealed a deletion which extended from the 5' end of the AR gene to a region approximately 80 kb proximal to the EPLG2 gene. The clinical manifestations of the two sisters include psychomotor retardation, seizures, ataxia, hypotonia and complete androgen insensitivity. Cranial MRI scans show enlargement of the cerebral ventricles and cerebellar hypoplasia. Our findings give further support for the involvement of the oligophrenin-1 gene in specific morphological abnormalities of the brain which is of importance in the investigation of male patients presenting with mental retardation. In combination with our results from physical mapping we suggest that a region around the oligophrenin-1 locus is relatively bereft of vital genes.

Place, publisher, year, edition, pages
1999. Vol. 7, no 5, 541-8 p.
Keyword [en]
oligophrenin-1 gene, mental retardation, deletion, Xq12, fibre-FISH
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-51341PubMedID: 10439959OAI: oai:DiVA.org:uu-51341DiVA: diva2:79250
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2009-09-18Bibliographically approved

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Annerén, GöranDahl, Niklas
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