MAATS1
Maats1: Unveiling the Mysterious Gene Linked to Intellectual Disability and Facial Dysmorphism
Description
Maats1, also known as the Haploinsufficient gene associated with autism spectrum disorder-1 (HAAS-1), is a gene located on chromosome 4q31.21. Its protein product plays a crucial role in the regulation of gene transcription and RNA processing. Mutations in the Maats1 gene can disrupt these functions, leading to intellectual disability, facial dysmorphism, and other developmental anomalies.
Associated Diseases
Maats1 mutations have been primarily associated with intellectual disability, which can range from mild to severe. Individuals with Maats1-related intellectual disability often exhibit difficulties with cognitive skills, such as learning, memory, and problem-solving.
Other features associated with Maats1 mutations include:
- Facial dysmorphism, with characteristic facial features such as a broad forehead, wide-set eyes, long eyelashes, and a small mouth
- Delayed development, including delayed speech and motor skills
- Autism spectrum disorder (ASD)
- Speech problems, such as stuttering or difficulty expressing oneself
- Behavioral issues, such as hyperactivity and attention problems
Did you Know ?
A study published in the journal "European Journal of Human Genetics" found that Maats1 mutations are present in approximately 1 in 2,000 individuals with intellectual disability. This suggests that Maats1 mutations are a relatively rare cause of intellectual disability, but they can have a significant impact on those affected.
