Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)
نویسندگان
چکیده
منابع مشابه
Examining non-syndromic autosomal recessive intellectual disability (NS-ARID) genes for an enriched association with intelligence differences☆
Two themes are emerging regarding the molecular genetic aetiology of intelligence. The first is that intelligence is influenced by many variants and those that are tagged by common single nucleotide polymorphisms account for around 30% of the phenotypic variation. The second, in line with other polygenic traits such as height and schizophrenia, is that these variants are not randomly distribute...
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Computational analysis was carried out in the current study to analyze wild and mutant type (p.Cys283Asn, we identified in a previous study) of FBXO31 gene which has been identified to cause non-syndromic autosomal recessive intellectual disability. Using bioinformatics tools, structure prediction, conservation analysis, pocket identification and docking interactions were executed. Results obta...
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Objective: The aim of this study was to investigate the genetic causes of autosomal recessive intellectual disabilities (AR-ID) in Hamadan province of Iran. Materials & Methods: In this descriptive-analytical cross-sectional study, 25 families with more than one affected with putative autosomal recessive intellectual disability were chosen with collaboration of Welfare Organization of Hamada...
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High-throughput sequencing has greatly facilitated the elucidation of genetic disorders, but compared with X-linked and autosomal dominant diseases, the search for genetic defects underlying autosomal recessive diseases still lags behind. In a large consanguineous family with autosomal recessive intellectual disability (ARID), we have combined homozygosity mapping, targeted exon enrichment and ...
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ژورنال
عنوان ژورنال: Open Life Sciences
سال: 2017
ISSN: 2391-5412
DOI: 10.1515/biol-2017-0020