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  Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Mir, A., Kaufman, L., Noor, A., Motazacker, M. M., Jamil, T., Azam, M., et al. (2009). Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation. American Journal of Human Genetics, 85(6), 909-915. doi:10.1016/j.ajhg.2009.11.009.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7CA2-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7CA3-F
Genre: Journal Article
Alternative Title : Am J Hum Genet

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 Creators:
Mir, Asif, Author
Kaufman, Liana, Author
Noor, Abdul, Author
Motazacker, Mahdi M.1, Author
Jamil, Talal, Author
Azam, Matloob, Author
Kahrizi, Kimia, Author
Rafiq, Muhammad Arshad, Author
Weksberg, Rosanna, Author
Nasr, Tanveer, Author
Naeem, Farooq, Author
Tzschach, Andreas2, Author              
Kuss, Andreas W.3, Author              
Ishak, Gisele E., Author
Doherty, Dan, Author
Ropers, Hans-Hilger2, Author              
Barkovich, A. James, Author
Najmabadi, Hossein, Author
Ayub, Muhammad, Author
Vincent, John B., Author
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Familial 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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 Abstract: Mental retardation/intellectual disability is a devastating neurodevelopmental disorder with serious impact on affected individuals and their families, as well as on health and social services. It occurs with a prevalence of ∼2%, is an etiologically heterogeneous condition, and is frequently the result of genetic aberrations. Autosomal-recessive forms of nonsyndromic MR (NS-ARMR) are believed to be common, yet only five genes have been identified. We have used homozygosity mapping to search for the gene responsible for NS-ARMR in a large Pakistani pedigree. Using Affymetrix 5.0 single nucleotide polymorphism (SNP) microarrays, we identified a 3.2 Mb region on 8q24 with a continuous run of 606 homozygous SNPs shared among all affected members of the family. Additional genotype data from microsatellite markers verified this, allowing us to calculate a two-point LOD score of 5.18. Within this region, we identified a truncating homozygous mutation, R475X, in exon 7 of the gene TRAPPC9. In a second large NS-ARMR/ID family, previously linked to 8q24 in a study of Iranian families, we identified a 4 bp deletion within exon 14 of TRAPPC9, also segregating with the phenotype and truncating the protein. This gene encodes NIK- and IKK-β-binding protein (NIBP), which is involved in the NF-κB signaling pathway and directly interacts with IKK-β and MAP3K14. Brain magnetic resonance imaging of affected individuals indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals. Thus, to our knowledge, this is the sixth gene for NS-ARMR to be discovered.

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Language(s): eng - English
 Dates: 2009-12-11
 Publication Status: Published in print
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Title: American Journal of Human Genetics
  Alternative Title : Am J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 85 (6) Sequence Number: - Start / End Page: 909 - 915 Identifier: ISSN: 0002-9297