title: A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
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.
authors: Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
authors: Masoud
authors: M
authors: Garshasbi
authors: Kimia
authors: K
authors: Kahrizi
authors: Masoumeh
authors: M
authors: Hosseini
authors: Leila
authors: L
authors: Nouri Vahid
authors: Masoumeh
authors: M
authors: Falah
authors: Sahel
authors: S
authors: Hemmati
authors: Hao
authors: H
authors: Hu
authors: Andreas
authors: A
authors: Tzschach
authors: Hans Hilger
authors: HH
authors: Ropers
authors: Hossein
authors: H
authors: Najmabadi
authors: Andreas Walter
authors: AW
authors: Kuss
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007492:Iran; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; C524338:TUSC3 protein, human; D025521:Tumor Suppressor Proteins