Fragile X syndrome: Current insight

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• 作者：Deepika Delsa Dean ^{deepikadean.ddd@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Srinivasn Muthuswamy ^{srinimbt@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Sarita Agarwal ; ^{saritasgpgi@gmail.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：ID ; intellectual disability ; FXS ; fragile X syndrome ; FMR1 ; Fragile X Mental Retardation 1 ; FMRP ; Fragile X Mental Retardation Protein ; UTR ; untranslated region ; PM ; premutation ; FM ; full mutation ; DNA ; deoxyribo nucleic acid ; FXTAS ; Fragile X-associated Tremor/Ataxia Syndrome ; FXPOI ; Fragile X associated Premature Ovarian Faliure ; mRNA ; messenger ribonucleic acid ; FSH ; follicle stimulating hormone ; AMH ; anti-mullerian hormone ; NLS ; nuclear localization signal ; NES ; nuclear export signal
• 刊名：Egyptian Journal of Medical Human Genetics
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：17
• 期：4
• 页码：303-309
• 全文大小：993 K

文摘

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.