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

Year: 2021

Type: article

Abstract: 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

Source: Gynecology and Reproductive Endocrinology

Author: Dejan B. Budimirovic

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W3184556297

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