Logo-aim
Arch Iran Med. 2015;18(10):0-0.
PMID: 26443248
Scopus id: 84943535553
  Abstract View: 579
  PDF Download: 474

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 *

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.
CONCLUSION: These findings can be used to prevent the birth of children with ARID by checking the other partner for possible disease causing variants.
First name
 
Last name
 
Email address
 
Comments
 
Security code


Article Viewed: 579

Your browser does not support the canvas element.


PDF Downloaded: 474

Your browser does not support the canvas element.

First published online: 01 Oct 2015
EndNote EndNote

(Enw Format - Win & Mac)

BibTeX BibTeX

(Bib Format - Win & Mac)

Bookends Bookends

(Ris Format - Mac only)

EasyBib EasyBib

(Ris Format - Win & Mac)

Medlars Medlars

(Txt Format - Win & Mac)

Mendeley Web Mendeley Web
Mendeley Mendeley

(Ris Format - Win & Mac)

Papers Papers

(Ris Format - Win & Mac)

ProCite ProCite

(Ris Format - Win & Mac)

Reference Manager Reference Manager

(Ris Format - Win only)

Refworks Refworks

(Refworks Format - Win & Mac)

Zotero Zotero

(Ris Format - FireFox Plugin)