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

doi:10.1007/s11515-018-1508-0

Front. Biol.

2018, Vol. 13

Issue (6) : 464-468 https://doi.org/10.1007/s11515-018-1508-0

RESEARCH ARTICLE

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

Peyman Hadi¹, Karimeh Haghani², Ali Noori-Zadeh³, Salar Bakhtiyari²(

)

¹. Department of biology, Sanandaj Branch, Islamic Azad University, Kurdistan, Iran
². Department of Clinical Biochemistry, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran
³. Department of Clinical Biochemistry, Faculty of Paramedicine, Ilam University of Medical Sciences, Ilam, Iran

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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.

Keywords genetic diseases inborn FMR1 karyotype diagnosis mental retardation

Corresponding Author(s): Salar Bakhtiyari

Online First Date: 30 July 2018 Issue Date: 30 November 2018

Cite this article:

Peyman Hadi,Karimeh Haghani,Ali Noori-Zadeh, et al. Prevalence of fragile X syndrome among patients with mental retardation in the west of Iran[J]. Front. Biol., 2018, 13(6): 464-468.

URL:

https://academic.hep.com.cn/fib/EN/10.1007/s11515-018-1508-0
https://academic.hep.com.cn/fib/EN/Y2018/V13/I6/464

Tab.1 Distribution of the mental retardation males according to the age of diagnosis

Tab.2 Frequency of fragile X features in the mental retardation males

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