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  A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

Garshasbi, M., Hadavi, V., Habibi, H., Kahrizi, K., Kariminejad, R., Behjati, F., et al. (2008). A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. The American Journal of Human Genetics, 82(5), 1158-1164. doi:10.1016/j.ajhg.2008.03.018.

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Genre: Journal Article
Alternative Title : Am J Hum Genet

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 Creators:
Garshasbi, Masoud1, Author           
Hadavi, Valeh, Author
Habibi, Haleh, Author
Kahrizi, Kimia, Author
Kariminejad, Roxana, Author
Behjati, Farkhondeh, Author
Tzschach, Andreas1, Author           
Najmabadi, Hossein, Author
Ropers, Hans-Hilger1, Author           
Kuss, Andreas Walter2, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              

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 Abstract: Recent studies have shown that autosomal recessive mental retardation (ARMR) is extremely heterogeneous, and there is reason to believe that the number of underlying gene defects goes into the thousands. To date, however, only four genes have been implicated in nonsyndromic ARMR (NS-ARMR): PRSS12 (neurotrypsin), CRBN (cereblon), CC2D1A, and GRIK2. As part of an ongoing systematic study aiming to identify ARMR genes, we investigated a large consanguineous family comprising seven patients with nonsyndromic ARMR in four sibships. Genome-wide SNP typing enabled us to map the relevant genetic defect to a 4.6 Mbp interval on chromosome 8. Haplotype analyses and copy-number studies led to the identification of a homozygous deletion partly removing TUSC3 (N33) in all patients. All obligate carriers of this family were heterozygous, but none of 192 unrelated healthy individuals from the same population carried this deletion. We excluded other disease-causing mutations in the coding regions of all genes within the linkage interval by sequencing; moreover, we verified the complete absence of a functional TUSC3 transcript in all patients through RT-PCR. TUSC3 is thought to encode a subunit of the endoplasmic reticulum-bound oligosaccharyltransferase complex that catalyzes a pivotal step in the protein N-glycosylation process. Our data suggest that in contrast to other genetic defects of glycosylation, inactivation of TUSC3 causes nonsyndromic MR, a conclusion that is supported by a separate report in this issue of AJHG. TUSC3 is only the fifth gene implicated in NS-ARMR and the first for which mutations have been reported in more than one family.

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Language(s): eng - English
 Dates: 2008-05-01
 Publication Status: Issued
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Title: The American Journal of Human Genetics
  Alternative Title : Am J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 82 (5) Sequence Number: - Start / End Page: 1158 - 1164 Identifier: -