C9orf41
c9orf41: A Gene Linked to Neurodevelopmental Disorders and Cancer
Description
c9orf41 is a gene located on chromosome 9 in humans. It encodes a protein known as Chromosome 9 Open Reading Frame 41 (C9orf41). C9orf41 is expressed in various tissues, including the brain, heart, and skeletal muscle.
Associated Diseases
Mutations in the c9orf41 gene have been linked to several neurodevelopmental disorders, including:
- Intellectual disability: This is the most common symptom associated with c9orf41 mutations.
- Autism spectrum disorder (ASD): C9orf41 mutations have been identified in approximately 1% of individuals with ASD.
- Congenital heart defects: Some mutations in c9orf41 have been linked to congenital heart defects, such as atrial septal defect (ASD) and tetralogy of Fallot (TOF).
In addition to neurodevelopmental disorders, c9orf41 mutations have also been associated with certain types of cancer, including:
- Medulloblastoma: C9orf41 mutations are found in a subset of medulloblastomas, a type of brain cancer that primarily affects children.
- Glioma: A small number of gliomas, a type of brain cancer that occurs in adults, have been linked to c9orf41 mutations.
Did you Know ?
Approximately 1 in 500 individuals carries a mutation in the c9orf41 gene. However, only a small percentage of these individuals develop symptoms associated with c9orf41-related disorders. This suggests that other genetic or environmental factors may influence the expression and severity of these conditions.
