Fragile X Syndrome

https://doi.org/10.25100/cm.v45i4.1810

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Published: Dec 30, 2014
Issue: Vol. 45 No. 4 (2014)
Section Reviews

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Authors

Wilmar Saldarriaga Professor Morphology, Gynecology and Obstetrics. Hospital Universitario del Valle, Universidad del Valle, Cali, Colombia
Flora Tassone Department of Biochemistry and Molecular Medicine; UC Davis MIND Institute, University of California, Sacramento, USA
Laura Yuriko González-Teshima Medicine and surgery School, University of Valle. Cali, Colombia
Jose Vicente Forero-Forero Medicine and surgery School, University of Valle. Cali, Colombia
Sebastián Ayala-Zapata Medicine and surgery School, University of Valle. Cali, Colombia
Randi Hagerman Medical director and distinguished professor. Holder Research Chair in Fragile X syndrome. Department of Pediatrics, School of Medicine. UC Davis MIND Institute, University of California, Davis, USA.
Abstract
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of the fragile X mental retardation 1, a protein involved in synaptic plasticity and maturation.  Individuals with FXS present with intellectual disability, autism, hyperactivity, long face, large or prominent ears and macroorchidism at puberty and thereafter. Most of the young children with FXS will present with language delay, sensory hyper arousal and anxiety. Girls are less affected than boys, only 25% have intellectual disability. Given the genomic features of the syndrome, there are patients with a number of triplet repeats between 55 and 200, known as premutation carriers. Most carriers have a normal IQ but some have developmental problems. The diagnosis of FXS has evolved from karyotype with special culture medium, to molecular techniques that are more sensitive and specific including PCR and Southern Blot. During the last decade, the advances in the knowledge of FXS, has led to the development of investigations on pharmaceutical management or targeted treatments for FXS. Minocycline and sertraline have shown efficacy in children.

Author Biographies

Wilmar Saldarriaga, Professor Morphology, Gynecology and Obstetrics. Hospital Universitario del Valle, Universidad del Valle, Cali, Colombia

Professor Morphology, Gynecology and Obstetrics. Hospital Universitario del Valle, Universidad del Valle, Cali, Colombia

Flora Tassone, Department of Biochemistry and Molecular Medicine; UC Davis MIND Institute, University of California, Sacramento, USA

Research Biochemist, Department of Biochemistry and Molecular Medicine; UC Davis MIND Institute, University of California, Sacramento, USA.

Laura Yuriko González-Teshima, Medicine and surgery School, University of Valle. Cali, Colombia

Medicine and surgery School, University of Valle. Cali, Colombia

Jose Vicente Forero-Forero, Medicine and surgery School, University of Valle. Cali, Colombia

Medicine and surgery School, University of Valle. Cali, Colombia

Sebastián Ayala-Zapata, Medicine and surgery School, University of Valle. Cali, Colombia

Medicine and surgery School, University of Valle. Cali, Colombia

Randi Hagerman, Medical director and distinguished professor. Holder Research Chair in Fragile X syndrome. Department of Pediatrics, School of Medicine. UC Davis MIND Institute, University of California, Davis, USA.

Medical director and distinguished professor. Holder Research Chair in Fragile X syndrome. Department of Pediatrics, School of Medicine. UC Davis MIND Institute, University of California, Davis, USA.

How to Cite
Saldarriaga, W., Tassone, F., González-Teshima, L. Y., Forero-Forero, J. V., Ayala-Zapata, S., & Hagerman, R. (2014). Fragile X Syndrome. Colombia Medica, 45(4), 190–198. https://doi.org/10.25100/cm.v45i4.1810
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Received 2014-11-20
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