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Egyptian Journal of Medical Human Genetics

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Fragile X syndrome: Current insight

Deepika Delsa Dean, Srinivasn Muthuswamy, Sarita Agarwal

Abstract


Fragile X syndrome (FXS) is a multigenerational disorder having massive adverse effect not only on the individuals but also on their families. It is the most common type of intellectual disability after Down’s syndrome. Over two decades have passed since the discovery of FMR1, the causal gene for FXS, but still little is known about the pathophysiology of this disease. This lack of knowledge presents the major barrier encountered by the scientific community for early diagnosis and effective treatment. Since early diagnosis has important implication in determining the disease status among members of the family tree so the genetic counseling and supportive therapy get hampered in larger perspective. The present review emphasizes on the recent findings in FXS pathophysiology, therapeutics and technical challenges in molecular diagnosis.

Keywords: Fragile X syndrome (FXS); Premutation (PM); Full mutation (FM); Metabotropic glutamate receptor (mGluR); Triplet primed PCR (TP PCR)




http://dx.doi.org/10.1016/j.ejmhg.2016.01.005
AJOL African Journals Online