Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Fragile X syndrome causes
Introduction
Overview
Overview
Fragile X syndrome is caused by a change to a FMR1 gene on the X-chromosome. This gene responsible for brain development and to function normally. If this gene is altered in any way, it cannot produce its FMR1 protein, which can result in Fragile X syndrome.
Causes
Causes
Fragile x Syndrome is a genetic disease which is caused by mutation in the Fragile x Mental Retardation 1(FMR1) gene in X chromosome. Generally, these mutation (>200 repeats of CGG) occurs at in the 5′ untranslated region of FMR1. In around 2% of cases, Fragile X syndrome can occur as a result of point mutation in FMR1 gene.
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]