Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Prevalence of fragile X syndrome among patients with mental retardation in the west of Iran

Sat Jun 15 03:44:49 2024

(2018) Prevalence of fragile X syndrome among patients with mental retardation in the west of Iran. Frontiers in Biology. pp. 464-468. ISSN 16747984 (ISSN)

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Background: Fragile X syndrome (FXS), an X-linked disorder, is the most common cause of inherited mental retardation. This is caused by a trinucleotide CGG repeat expansion (>200) on the fragile X mental retardation 1 gene (FMR1) becoming methylated leading to a deficiency or absence of the FMR1 protein. Determining FXS prevalence in the mentally retarded individuals in the west of Iran was the aim of this study. Methods: 200 patients with moderate mental retardation who were clinically suspicious to FXS were screened using cytogenetic and molecular methods. Blood samples were collected and cultured in the specific culture media. The G-Banding method was used for karyotyping and DNA sequencing performed for verifying the results of the cytogenetic tests. Results: 16 patients (8) were found to have fragile X syndrome. The results showed that there is no significant association between the fragile X syndrome and economic status and place of residence, however, the relationship between fragile X syndrome and mental retardation in the family history is significant. Conclusion: The frequency of FXS was similar to other reports in the preselected patients. For diagnosis of FXS, chromosome analysis must be accompanied by molecular studies. © 2018, Higher Education Press and Springer-Verlag GmbH Germany, part of Springer Nature.

Item Type: Article
Keywords: diagnosis FMR1 genetic diseases inborn karyotype mental retardation
Page Range: pp. 464-468
Journal or Publication Title: Frontiers in Biology
Journal Index: Scopus
Volume: 13
Number: 6
Identification Number:
ISSN: 16747984 (ISSN)
Depositing User: مهندس مهدی شریفی

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