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  The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Davarniya, B., Hu, H., Kahrizi, K., Musante, L., Fattahi, Z., Hosseini, M., et al. (2015). The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families. PLoS One, 10(8): e0129631. doi:10.1371/journal.pone.0129631.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0000-C703-C Version Permalink: http://hdl.handle.net/21.11116/0000-0000-C704-B
Genre: Journal Article

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 Creators:
Davarniya, B., Author
Hu, H.1, Author
Kahrizi, K., Author
Musante, L.1, Author              
Fattahi, Z., Author
Hosseini, M., Author
Maqsoud, F., Author
Farajollahi, R., Author
Wienker, T. F.2, Author              
Ropers, H. H.1, Author              
Najmabadi, H., Author
Affiliations:
1Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              
2Clinical Genetics (Thomas F. Wienker), Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385696              

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Free keywords: Adolescent Adult Amino Acid Sequence Base Sequence Brain Mapping Child Child, Preschool Chromosome Segregation/genetics Exome/genetics Family Female Genetic Linkage Genotype Humans Intellectual Disability/*genetics Iran Male Middle Aged Molecular Sequence Data Mutation/*genetics Pedigree Protein Isoforms/chemistry/genetics Receptors, Metabotropic Glutamate/chemistry/*genetics Sequence Analysis, DNA Young Adult tRNA Methyltransferases/*genetics
 Abstract: Cognitive impairment or intellectual disability (ID) is a widespread neurodevelopmental disorder characterized by low IQ (below 70). ID is genetically heterogeneous and is estimated to affect 1-3% of the world's population. In affected children from consanguineous families, autosomal recessive inheritance is common, and identifying the underlying genetic cause is an important issue in clinical genetics. In the framework of a larger project, aimed at identifying candidate genes for autosomal recessive intellectual disorder (ARID), we recently carried out single nucleotide polymorphism-based genome-wide linkage analysis in several families from Ardabil province in Iran. The identification of homozygosity-by-descent loci in these families, in combination with whole exome sequencing, led us to identify possible causative homozygous changes in two families. In the first family, a missense variant was found in GRM1 gene, while in the second family, a frameshift alteration was identified in TRMT1, both of which were found to co-segregate with the disease. GRM1, a known causal gene for autosomal recessive spinocerebellar ataxia (SCAR13, MIM#614831), encodes the metabotropic glutamate receptor1 (mGluR1). This gene plays an important role in synaptic plasticity and cerebellar development. Conversely, the TRMT1 gene encodes a tRNA methyltransferase that dimethylates a single guanine residue at position 26 of most tRNAs using S-adenosyl methionine as the methyl group donor. We recently presented TRMT1 as a candidate gene for ARID in a consanguineous Iranian family (Najmabadi et al., 2011). We believe that this second Iranian family with a biallelic loss-of-function mutation in TRMT1 gene supports the idea that this gene likely has function in development of the disorder.

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Language(s): eng - English
 Dates: 2016-08-262015
 Publication Status: Published in print
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 Identifiers: DOI: 10.1371/journal.pone.0129631
ISSN: 1932-6203 (Electronic)
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Title: PLoS One
Source Genre: Journal
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Publ. Info: San Francisco, CA : Public Library of Science
Pages: - Volume / Issue: 10 (8) Sequence Number: e0129631 Start / End Page: - Identifier: ISSN: 1932-6203
CoNE: https://pure.mpg.de/cone/journals/resource/1000000000277850