MEF2BNB-MEF2B
Title: Unraveling the Enigma of MEF2B: A Gene Linked to Neurodevelopmental Disorders
Description:
MEF2B is a fascinating and enigmatic gene that plays a crucial role in the development and function of the human brain. This article delves into the world of MEF2B, exploring its associated diseases, intriguing statistics, and the latest research findings that are shedding light on its complexities.
Associated Diseases:
MEF2B mutations have been linked to a spectrum of neurodevelopmental disorders, including:
- Kleefstra Syndrome: A rare genetic condition characterized by intellectual disability, distinctive facial features, and speech delay.
- Syndromic Autism Spectrum Disorder: A subtype of autism characterized by specific genetic mutations in addition to autism traits.
- Non-Syndromic Intellectual Disability: Isolated intellectual disability without any additional physical or developmental abnormalities.
Did you Know ?
Studies have revealed that MEF2B mutations account for approximately 1-2% of cases of Kleefstra Syndrome, a relatively high prevalence for a rare disorder.
