Gynecology and Reproductive Endocrinology

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Conference Proceedings - Gynecology and Reproductive Endocrinology (2021) Volume 5, Issue 0

A comprehensive FMR1 gene mutations genotype-FMRP study: Expanding an insight into fragile X-associated disorders

Expansion mutations of the Fragile X Mental Retardation 1 (FMR1) gene (normal 10?45 CCGs) cause clinical phenotypes of FX-associated disorders. Fragile X syndrome (FXS) is caused by full?mutation (FM, >200 CGGs) and epigenetic silencing of the FMR1 gene, which leads to reduction/lack of the gene?s protein (FMRP). FXS is the most common monogenetic cause of inherited intellectual disability (ID) and autism spectrum disorder (ASD). In premutation (PM, 55-200 CGGs), 20% women may develop an early menopause (FXPOI). Methodology: DNA- AmplideX

Author(s): Dejan Budimirovic

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