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  A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family

Garshasbi, M., Kahrizi, K., Hosseini, M., Nouri Vahid, L., Falah, M., Hemmati, S., et al. (2011). A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A, 155A(8), 1976-80. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21739581 http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.34077/asset/34077_ftp.pdf?v=1&t=gywol1uq&s=ec352f52fafca7e14ea5a40f0e1c6de8c051a8a4.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-793F-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7940-7
Genre: Journal Article

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Garshasbi, M.1, Author              
Kahrizi, K., Author
Hosseini, M., Author
Nouri Vahid, L., Author
Falah, M., Author
Hemmati, S., Author
Hu, H.1, Author              
Tzschach, A.1, Author              
Ropers, H. H.1, Author              
Najmabadi, H., Author
Kuss, A. W.2, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              

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Free keywords: Adolescent; Amino Acid Sequence; Base Sequence; Chromosomes, Human, Pair 8/genetics; *Codon, Nonsense; *Consanguinity; DNA Mutational Analysis; Female; *Genes, Recessive; Genetic Linkage; Haplotypes; Humans; Intellectual Disability/*genetics; Iran; Male; Membrane Proteins/*genetics; Middle Aged; Pedigree; Tumor Suppressor Proteins/*genetics; Young Adult
 Abstract: The genetic basis of autosomal recessive mental retardation (ARMR) is extremely heterogeneous, and there is reason to suspect that the number of underlying gene defects may well go beyond 1,000. To date, however, only less than 10 genes have been implicated in non-specific/non-syndromic ARMR (NS-ARMR). As part of an ongoing systematic study aiming to identify further ARMR genes, we investigated a consanguineous family with three patients with NS-ARMR. By linkage analysis and subsequent mutation screening we identified a novel nonsense mutation (c.163C > T [p.Q55X]) in the second exon of the TUSC3 gene. This is the third MR causing defect in TUSC3 to be described and the second independent mutation in this gene in a cohort of more than 200 ARMR families from the Iranian population. This argues for a more prominent role of TUSC3 in the etiology of this genetically heterogeneous disorder as compared to most of the other so far identified ARMR genes.

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 Dates: 2011
 Publication Status: Published in print
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Title: Am J Med Genet A
Source Genre: Journal
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Pages: - Volume / Issue: 155A (8) Sequence Number: - Start / End Page: 1976 - 80 Identifier: ISSN: 1552-4833 (Electronic) 1552-4825 (Linking)