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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents

ID: 334101.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation
Authors:Kalscheuer, Vera M.; FitzPatrick, David; Tommerup, Niels; Bugge, Merete; Niebuhr, Erik; Neumann, Luitgard M.; Tzschach, Andreas; Shoichet, Sarah A.; Menzel, Corinna; Erdogan, Fikret; Arkesteijn, Ger; Ropers, Hans-Hilger; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD):2007-01-09
Title of Journal:Human Genetics
Journal Abbrev.:Hum. Genet.
Issue / Number:3-4
Start Page:501
End Page:509
Copyright:© Springer. Part of Springer Science+Business Media
Review Status:not specified
Audience:Experts Only
Abstract / Description:We report on three unrelated mentally disabled patients, each carrying a de novo balanced translocation that truncates the autism susceptibility candidate 2 (AUTS2) gene at 7q11.2. One of our patients shows relatively mild mental retardation; the other two display more profound disorders. One patient is also physically disabled, exhibiting urogenital and limb malformations in addition to severe mental retardation. The function of AUTS2 is presently unknown, but it has been shown to be disrupted in monozygotic twins with autism and mental retardation, both carrying a translocation t(7;20)(q11.2;p11.2) (de la Barra et al. in Rev Chil Pediatr 57:549–554, 1986; Sultana et al. in Genomics 80:129–134, 2002). Given the overlap of this autism/mental retardation (MR) phenotype and the MR-associated disorders in our patients, together with the fact that mapping of the additional autosomal breakpoints involved did not disclose obvious candidate disease genes, we ascertain with this study that AUTS2 mutations are clearly linked to autosomal dominant mental retardation.
Comment of the Author/Creator:Vera M. Kalscheuer
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Clinical Genetics Department and MRC Human Genetics Unit, MRC, Western General Hospital, Edinburgh, UK;
2.Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, Copenhagen, Denmark;
3.Department of Medical Biochemistry and Genetics, The Panum Institute, Copenhagen, Denmark;
4.Institute for Human Genetics, Charité Campus Virchow-Klinikum, Berlin, Germany;
5.Department of Infectious Diseases and Immunology, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands.
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