SavedAdd your journal

Journals / Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi / 2018 / Cilt: 7 - Sayı: 4

Fragile X Syndrome: Molecular and Clinical Genetics Aspects

Frajil X Sendromu: Moleküler ve Klinik Genetik Yönleri

Elçin Latife KURTOĞLU
Emine DEMİRAL
İbrahim TEKEDERELİ
Pages
74–88
Publication Date
2022-10-19
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this study, epidemiology, clinical features, diagnostic methods of Frajil X Syndrome is reviewed.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Frajil X Syndrome is the most common cause of inherited mental retardation and the second among all intellectual disability causes after Down Syndrome.
📊
Key Findings & Data:The increase in the repeat number of CGG triplet nucleotides in the untranslated region at the 5' end of the fragile X mental retardation 1 (FMR1) gene located in the q27.3 region of the X chromosome plays role in the etiology.
💡
Conclusion & Impact:In this study, epidemiology, clinical features, diagnostic methods of Frajil X Syndrome is reviewed.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Frajil X Syndrome is the most common cause of inherited mental retardation and the second among all intellectual disability causes after Down Syndrome. The increase in the repeat number of CGG triplet nucleotides in the untranslated region at the 5' end of the fragile X mental retardation 1 (FMR1) gene located in the q27.3 region of the X chromosome plays role in the etiology. This repeat increase also leads to fragility in the Xq27.3 region, which can be demonstrated by cytogenetic studies. The disease phenotype may vary between generations and genders. Different cytogenetic and molecular methods are used in the diagnosis. In this study, epidemiology, clinical features, diagnostic methods of Frajil X Syndrome is reviewed.

Özet

Frajil X Sendromu, kalıtılabilir zeka geriliğinin en sık sebebidir. Tüm zihinsel gerilik nedenleri arasında da Down Sendromu’ndan sonra ikinci sırada yer almaktadır. Etyolojisinde, X kromozomunun q27.3 bölgesinde bulunan frajil X mental retardasyon 1 (FMR1) geninin 5’ ucunda translasyon olmayan bölgesindeki CGG üçlü nükleotid tekrar sayısının artışı rol oynamaktadır. Bu tekrar artışı aynı zamanda, sitogenetik çalışmalarla gösterilebilen, Xq27.3 bölgesinde kırılganlığa yol açmaktadır. Hastalık fenotipi, kuşaklar arasında ve cinsiyete göre farklılık gösterebilmektedir. Tanısında farklı sitogenetik ve moleküler yöntemler kullanılmaktadır. Bu çalışmada Frajil X sendromunun epidemiyolojisi, klinik özellikleri, tanı yöntemleri ele alınmıştır.

🔖

Cite This Article

KURTOĞLU, E. L., DEMİRAL, E., TEKEDERELİ, İ. (2022). Fragile X Syndrome: Molecular and Clinical Genetics Aspects. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi, Cilt: 7 - Sayı: 4, 74–88. https://ajindex.com/articles/527477

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (11)

  1. Verkerk, A.J., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P., Pizzuti, A., et al. (1991). ‘‘Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome’’. Cell, 65, 905-914.
  2. Saldarriaga, W., Tassone, F., Gonzalez-Teshima, L.Y., Forero- Forero, J.V., Ayala-Zapata, S., Hagerman, R. (2014). ‘‘Fragile X syndrome’’. Colombia medica, 45, 190-198.
  3. Crawford, D.C., Acuna, J.M., Sherman, S.L. (2001). ‘‘ FMR1 and the fragile X syndrome, human genome epidemiology review’’. Genetics in medicine, 3, 359-371.
  4. Mazzocco, M.M. (2000). ‘‘Advances in research on the fragile X syndrome’’. Mental retardation and developmental disabilities research reviews, 6, 96-106.
  5. Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey, J., Sherman, S.L., et al. (2009). ‘‘Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA’’. American journal of human genetics, 85, 503-514. uncbilek, E., Alikasifoglu, M., Boduroglu, K., Aktas, D., Anar, B. (1999). ‘‘Frequency of fragile X syndrome among Turkish patients with mental retardation of unknown etiology’’. American journal of medical genetics, 84, 202- 203. Demirhan, O., Tastemir, D., Diler, R.S., Firat, S., Avci, A. (2003). ‘‘A cytogenetic study in 120 Turkish children with intellectual disability and characteristics of fragile X syndrome’’. Yonsei medical journal, 44, 583-592.
  6. Bilgen, T., Keser, I., Mihci, E., Haspolat, S., Tacoy, S., Luleci, G. (2005). ‘‘Molecular analysis of fragile X syndrome in Antalya Province’’. Indian journal of medical sciences, 59, 150-155.
  7. Tabolacci, E., Chiurazzi, P. (2013). ‘‘Epigenetics, fragile X syndrome and transcriptional therapy’’. American journal of medical genetics Part A, 161A, 2797-2808.
  8. Kim, M., Ceman, S. (2012). ‘‘Fragile X mental retardation protein, past, present and future’’. Current protein & peptide science, 13, 358-371.
  9. Penagarikano, O., Mulle, J.G., Warren, S.T. (2007). ‘‘The pathophysiology of fragile x syndrome’’. Annual review of genomics and human genetics, 8, 109-129.
  10. Beilina, A., Tassone, F., Schwartz, P.H., Sahota, P., Hagerman, P.J. (2004). ‘‘Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element’’. Human molecular genetics, 13, 543-549.
  11. Bagni, C., Oostra, B.A. (2013). ‘‘Fragile X syndrome, From protein function to therapy’’. American journal of medical genetics Part A, 161A, 2809-2821. de Vries, B.B