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  Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation

Kalscheuer, V. M., FitzPatrick, D., Tommerup, N., Bugge, M., Niebuhr, E., Neumann, L. M., et al. (2007). Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation. Human Genetics, 121(3-4), 501-509. doi:10.1007/s00439-006-0284-0.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8273-8 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8274-6
Genre: Journal Article
Alternative Title : Hum. Genet.

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Kalscheuer, Vera M.1, Author              
FitzPatrick, David, Author
Tommerup, Niels, Author
Bugge, Merete, Author
Niebuhr, Erik, Author
Neumann, Luitgard M., Author
Tzschach, Andreas2, Author              
Shoichet, Sarah A.2, Author              
Menzel, Corinna3, Author
Erdogan, Fikret2, Author              
Arkesteijn, Ger, Author
Ropers, Hans-Hilger2, Author              
Ullmann, Reinhard4, Author              
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Max Planck Society, ou_persistent13              
4Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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 Abstract: 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.

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Language(s): eng - English
 Dates: 2007-01-09
 Publication Status: Published in print
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Title: Human Genetics
  Alternative Title : Hum. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 121 (3-4) Sequence Number: - Start / End Page: 501 - 509 Identifier: ISSN: 0340-6717