IF: 0.644
REUTERS THOMSON

Investigation of Genetic Causes of Intellectual Disability in Kerman Province, South East of Iran

AUTHORS

MJ Soltani Banavandi 1 , K Kahrizi 1 , F Behjati 1 , M Mohseni 1 , H Darvish 1 , I Bahman 1 , S Sedigheh Abedinni 1 , S Ghasemi Firouzabadi 1 , E Jafari 2 , Sh Ghadami 1 , F Sabbagh 2 , GhR Kavoosi 3 , H Najmabadi 4 , *

1 Faculty of Basic Science, Science and Research Branch, Islamic Azad University, Fars, and Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Iran

2 Deptartment of Microbiology, Faculty of Basic Science, Islamic Azad University, Kerman Branch, Iran

3 Institute of Biotechnology, University of Shiraz, Iran

4 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, hnajm12@yahoo.com, Iran

How to Cite: Soltani Banavandi M, Kahrizi K, Behjati F, Mohseni M, Darvish H, et al. Investigation of Genetic Causes of Intellectual Disability in Kerman Province, South East of Iran, Iran Red Crescent Med J. Online ahead of Print ; 14(2):79-85.

ARTICLE INFORMATION

Iranian Red Crescent Medical Journal: 14 (2); 79-85
Article Type: Research Article
Received: July 10, 2011
Accepted: October 12, 2011

Crossmark

CHEKING

READ FULL TEXT
Abstract

Background: Intellectual disability (ID) has a worldwide prevalence of 1-3% and results from extraordinary heterogeneous. To shed more light on the causes of ID in Kerman Province, in Southeast Iran, we set out in 2008 to perform systematic clinical studies and homozygosity mapping in large Iranian families with ID.

 

Methods: Fifty seven families with a minimum of two mentally retarded children from Kerman Province were initially tested for metabolic disorders, by Tandem mass spectrometry. Fragile x testing and standard karyotyping were performed for all probands of families. Cases with autosomal recessive (AR) pattern of inheritance and microcephaly were subjected to homozygosity mapping by using several microsatellite markers for known MCPH loci.

 

Results: Three out of seven families with X-linked pattern of inheritance were positive for fragile x syndrome. Chromosome abnormality was not observed in any of dysmorphic patients and all families were negative for metabolic tests. Among the remaining 50 families of AR ID, six were found to be microcephalic, of which 2 linked to two MCPH loci (33.3%). The rest 4 families were not linked to any of the known loci.

 

Conclusion:  The results of this study showed that ID with microcephaly comprised 12% of ID cases in Kerman Province. In two families with apparent linkage to the MCPH5 and MCPH6 locus, mutation screening was not successful, which might indicate that either the mutation is located in the regulatory sequences of the gene or that there might be another genes present in these regions, which is mutated in such cases.

Keywords

Intellectual disability Microcephaly Iran

© 0, Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

Full Text

Full text is available in PDF

COMMENTS

LEAVE A COMMENT HERE: