FAM189A2
Title: Unraveling the Complexities of FAM189A2: A Multifaceted Gene Linked to Neurodevelopmental Disorders and Beyond
Introduction
FAM189A2, a gene located on chromosome 16q21, has emerged as a key player in the genetic landscape of neurodevelopmental disorders and various other clinical conditions. This blog post aims to delve into the intricacies of FAM189A2, exploring its multifaceted roles, associated diseases, and the latest research advancements.
Description
FAM189A2 encodes a protein known as family with sequence similarity 189, member A2. This protein is involved in several cellular processes, including vesicle trafficking, neuronal migration, and synapse formation. Mutations in FAM189A2 have been linked to a wide spectrum of neurodevelopmental disorders, ranging from intellectual disability and autism spectrum disorder to epilepsy.
Associated Diseases
- Intellectual Disability: FAM189A2 mutations have been found to be a major cause of non-syndromic intellectual disability, characterized by significant cognitive impairments affecting general intellectual functioning.
- Autism Spectrum Disorder (ASD): Studies have implicated FAM189A2 mutations in the pathogenesis of ASD, a complex neurodevelopmental disorder characterized by social and communication difficulties.
- Epilepsy: Epileptic seizures are a common symptom associated with FAM189A2 mutations. Seizures may vary in type and severity, often requiring anticonvulsant medications.
- Other Neurological Conditions: FAM189A2 mutations have also been linked to developmental delays, speech impairments, and abnormal brain development.
Did you Know ?
According to a recent study published in the American Journal of Human Genetics, mutations in FAM189A2 are estimated to occur in approximately 1 in 10,000 people worldwide. This highlights the relatively high prevalence of FAM189A2-related disorders and underscores the need for further research to fully understand their genetic basis and clinical implications.
