Arch Iran Med. 2015;18(10): 0-0.
PMID: 26443248
Scopus ID: 84943535553
  Abstract View: 690
  PDF Download: 550

Original Article

Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing

Zohreh Mehrjoo, Mohammad Reza Akbari, Seyedeh Sedigheh Abedini, Saeideh Vaziri, Kimia Kahrizi, Hossein Najmabadi *


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.
CONCLUSION: These findings can be used to prevent the birth of children with ARID by checking the other partner for possible disease causing variants.
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ePublished: 01 Oct 2015
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