Published in: 12th Congress of Iranian Genetics Society
COI code: CIGS13_0681
Paper Language: English
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Authors Exome sequencing reveals novel genes in ARID associated with ataxia familiesRoshanak Jazayeri - Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Hao Hu - Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Zohreh Fattahi - Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran,
Luciana Musante - Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Abstract:Intellectual disability (ID) afflicts about 1-3% of the general population. ARID is clinically and genetically heterogeneous often occurring within consanguineous families. There is a critical need to find underlying genetic causes for improving diagnosis, recurrent risk calculation, prognosis and providing prenatal diagnosis services. We investigated the potential ofwhole exome sequencing to delineate the genetic defects in six families with intellectual disability, ataxia and some othersymptoms like cataract and nystagmus. We identified six candidate variants, one known (new mutation) and five novelcandidate genes which haven't previously been implicated in ARID phenotype. Our data exhibit impressiveness of exomesequencing for rapid and also cheaper molecular diagnosis of clinically and genetically heterogeneous diseases in populations with high rate of consanguinity like Iran
Keywords:Intellectual Disability, ataxia, autosomal recessive, exome sequencing, gene
COI code: CIGS13_0681
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Jazayeri, Roshanak; Hao Hu; Zohreh Fattahi & Luciana Musante, 2014, Exome sequencing reveals novel genes in ARID associated with ataxia families, 12th Congress of Iranian Genetics Society, تهران, انجمن ژنتيك ايران, https://www.civilica.com/Paper-CIGS13-CIGS13_0681.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Jazayeri, Roshanak; Hao Hu; Zohreh Fattahi & Luciana Musante, 2014)
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Type: state university
Paper No.: 860
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