Fragile X Syndrome
This web page was produced as an assignment for Biol 4321, an undergraduate special topic course at MGA.
Fragile X syndrome (FXS) is one of the most common genetic causes of autism and intellectual disability. It symptoms are more severe in hemizygous males (1 in 3600) (Liu 2016), who only have one X chromosome as compared 1 in 6000 females (Bhogal 2010). Symptoms and characteristics of individuals with FXS include behavioral issues, trouble socializing, ADHD and some developmental delay. Many of the physical features of FXS are due to connective tissue dysplasia and can include elongated thin face with prominent ears that becomes more discernible with increasing age, in addition macroorchidism (enlarged testes) is common in post-pubescent males (Garber 2008).
References: Liu, X., Wu, H., Krzisch, M., Wu, X., Graef, J., Muffat, J., & Hnisz, D. (2018, February 15). Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene [Electronic version]. Cell, 172(5), 979-992. Bhogal, B., & Jongens, T. A. (2010, August 3). Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention. Disease Models & Mechanisms, 3(11), 693-700. doi: 10.1242/dmm.002006 Garber, K. B., Visootsak, J., & Warren, S. T. (2008, April 9). Fragile X syndrome [Electronic version]. European Journal of Human Genetics, 16, 666-672. doi:10.1038/ejhg.2008.61 |
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