title

نقش موتاسیون های ژن جدید TRMT1 و یک ژن نادر GRM1 به عنوان علل ناتوانی ذهنی و در بین دو خانواده آذری

داورنیا, بهزاد and Hu, Hao and کهریزی, کیمیا and Musante, Luciana and فتاحی, زهره and حسینی, معصومه and مقصودی, فریبا and فرج اللهی, رضا and F. Wienker, Thomas and Ropers, H. Hilger and نجم آبادی, حسین (1394) نقش موتاسیون های ژن جدید TRMT1 و یک ژن نادر GRM1 به عنوان علل ناتوانی ذهنی و در بین دو خانواده آذری. PloS ONE ــ 10 (8). pp. 13-1. شاپا 1932-6203

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Title

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

English 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

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :بهزاد داورنیا
نویسنده مسئول :حسین نجم آبادی
Additional Information:Impact Factor (2015) 3.057 Indexed in: ISI, Pubmed/Medline/Index Medicus, Scopus, Chemical Abstracts,EMBASE, Google Scholar, PsychInfo
کلیدواژه ها (انگلیسی):Intellectual Disability,TRMT1 ,GRM1 Gene,Consanguineous marriage
Subjects:WL Nervous system
Divisions:Faculty of Medicine > Department of Basic Sciences > Department of Genetics
ID Code:8480
Deposited By: Dr Behzad Davarnia
Deposited On:23 Dec 1395 10:39
Last Modified:23 Dec 1395 10:39

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