Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Home
Search
Quick Search
Advanced
Fulltext
Browse
Collections
Persons
My eDoc
Session History
Login
Name:
Password:
Documentation
Help
Support Wiki
Direct access to
document ID:


          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



  history
ID: 473414.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population
Authors:Pouya, Ali Reza; Abedini, Seyedeh Sedigheh; Mansoorian, Neda; Behjati, Farkhondeh; Nikzat, Nooshin; Mohseni, Marzieh; Nieh, Sahar Esmaeeli; Moheb, Lia Abbasi; Darvish, Hossein; Monajemi, Gholamreza Bahrami; Banihashemi, Susan; Kahrizi, Kimia; Ropers, Hans-Hilger; Najmabadi, Hossein
Language:English
Date of Publication (YYYY-MM-DD):2009-04
Title of Journal:European Journal of Medical Genetics
Journal Abbrev.:Eur J Med Genet
Volume:52
Issue / Number:4
Start Page:170
End Page:173
Copyright:© 2009 Elsevier B.V.
Review Status:not specified
Audience:Experts Only
Abstract / Description:Fragile X syndrome is the most common form of inherited mental retardation (MR). It is caused by the expansion of CGG triplet repeats in the fragile X mental retardation 1 (FMR1) gene. In mentally retarded males, the frequency of fragile X syndrome is approximately 2–3 percent, but little is known about its proportion in mentally retarded patients from countries where parental consanguinity is common.

The objective of this study was to estimate the frequency of fragile X syndrome (FXS) in mentally retarded patients from Iran. We examined a total of 508 families with MR that had been referred to the Genetics Research Center (GRC) in Tehran of which 467 families had at least two mentally retarded children. In 384 families, the parents were related and in 124 they were not related of which most of them had putative or established X-linked inheritance pattern. Full FMR1 mutations were found in 32 of the 508 families studied (6.3%), in 19 out of 124 families with apparently unrelated parents (15.3%), and in 13 of the 384 consanguineous families (3.4%). Thus, in Iran, the relative frequency of FXS seems to be high, and in patients with unrelated parents is much higher. We also show that even in families with consanguineous parents, FXS has to be ruled out before assuming that familial MR is due to autosomal recessive gene defects. Molecular studies are in progress to explain the high proportion of FMR1 mutations in mentally retarded offspring of unrelated Iranian parents.
Free Keywords:Fragile X syndrome; Mental retardation; Consanguineous marriage
Comment of the Author/Creator:email: hnajm12@yahoo.com
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Kariminejad–Najmabadi Pathology and Genetics Center, Tehran, Iran
Identifiers:DOI:10.1016/j.ejmg.2009.03.014
ISSN:1769-7212
URL:http://www.sciencedirect.com/science?_ob=MImg&_ima...
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.