CCDC64
ccdc64: A Novel Gene Linked to Neurodevelopmental Disorders
Description
ccdc64 (coiled-coil domain containing 64) is a gene that plays a vital role in neurodevelopment. It encodes a protein that facilitates communication between neurons and is essential for the proper formation and function of the brain. Mutations in the ccdc64 gene have been associated with several neurodevelopmental disorders, including:
- Intellectual disability
- Autism spectrum disorder (ASD)
- Microcephaly (abnormally small head size)
- Congenital heart defects
Associated Diseases
Intellectual Disability:
Mutations in ccdc64 have been linked to different levels of intellectual disability, ranging from mild to severe. Individuals with ccdc64-related intellectual disability may experience difficulties in cognitive skills, such as learning, problem-solving, and memory.
Autism Spectrum Disorder (ASD):
ccdc64 mutations have been associated with the development of ASD. Individuals with ccdc64-related ASD may exhibit characteristic behaviors such as social difficulties, repetitive movements, and restricted interests.
Microcephaly:
Microcephaly is a condition in which the head is abnormally small due to insufficient brain growth. ccdc64 mutations are known to cause microcephaly, leading to developmental delays and intellectual disability.
Congenital Heart Defects:
Some ccdc64 mutations have been linked to congenital heart defects, such as septal defects and pulmonary stenosis. These defects can affect heart function and require medical interventions.
Did you Know ?
According to a study published in the journal "Molecular Psychiatry," mutations in the ccdc64 gene are estimated to occur in approximately 1 in 100,000 individuals. While this is a rare occurrence, it highlights the importance of identifying and understanding the genetic basis of neurodevelopmental disorders.
