title: Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.
abstract: BACKGROUND
  Intellectual Disability (ID) is one of the most common disabling impairments worldwide. Autosomal recessive ID (ARID), a genetically heterogeneous disorder, is more common in countries such as Iran where the rate of consanguineous marriages is high. Considering the social-economic burden of ARID in our country, it is crucial to find out whether couples who are cousins are carriers for disease causing mutations, in order to prevent the birth of an affected child.
  
  
  METHODS
  Using exome sequencing, we screened known ARID genes in a normal individual to identify possible mutations in heterozygous form.
  
  
  RESULTS
  We identified four protein coding alleles which possibly affect protein function, in different ID genes: PMM2, RBM28, SLC19A3, and VPS13B.
  
  
  CONCLUSIONS
  These findings can be used to prevent the birth of children with ARID by checking the other partner for possible disease causing variants.
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Mehrjoo
authors.affiliation: Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, ON, Canada.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Akbari
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Seyedeh Sedigheh
authors.initials: SS
authors.lastname: Abedini
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Saeideh
authors.initials: S
authors.lastname: Vaziri
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.affiliation: 1)Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. 3)Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D000328:Adult; D000483:Alleles; D003241:Consanguinity; D059472:Exome; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007492:Iran; D009154:Mutation; D010375:Pedigree