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

  • Research Article
  • Published:
Frontiers in Biology

Abstract

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.

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Acknowledgements

We are grateful for the supports of Ilam University of Medical Sciences.

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Authors and Affiliations

  1. Department of biology, Sanandaj Branch, Islamic Azad University, Kurdistan, Iran

    Peyman Hadi

  2. Department of Clinical Biochemistry, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran

    Karimeh Haghani & Salar Bakhtiyari

  3. Department of Clinical Biochemistry, Faculty of Paramedicine, Ilam University of Medical Sciences, Ilam, Iran

    Ali Noori-Zadeh

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  1. Peyman Hadi
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  2. Karimeh Haghani
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  4. Salar Bakhtiyari
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Correspondence to Salar Bakhtiyari.

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Hadi, P., Haghani, K., Noori-Zadeh, A. et al. Prevalence of fragile X syndrome among patients with mental retardation in the west of Iran. Front. Biol. 13, 464–468 (2018). https://doi.org/10.1007/s11515-018-1508-0

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