CCDC114
CCDC114: A Comprehensive Guide to Mutations and Their Impact on Health
Description
CCDC114, also known as coiled-coil domain containing 114, is a gene that encodes a protein involved in various cellular processes, including DNA repair and cell cycle regulation. Mutations in the CCDC114 gene have been associated with several inherited disorders and an increased risk of developing certain types of cancer.
Associated Diseases
Mutations in CCDC114 have been linked to the following diseases:
- Werner syndrome: A rare autosomal recessive disorder characterized by premature aging, growth retardation, and an increased risk of cancer.
- Bloom syndrome: Another rare autosomal recessive disorder that causes growth problems, facial abnormalities, and a higher susceptibility to infections and cancer.
- Rothmund-Thomson syndrome: A condition that affects skin, hair, and nails, and increases the risk of developing osteosarcoma, a type of bone cancer.
- Li-Fraumeni syndrome: A familial cancer syndrome that significantly increases the risk of developing breast cancer, sarcoma, leukemia, and other types of cancer.
- Pilomatrixoma: A benign skin tumor that can occur in individuals with CCDC114 mutations.
Did you Know ?
Studies have shown that approximately 1 in 10,000 individuals carries a mutation in the CCDC114 gene. However, the prevalence of mutations varies depending on the specific disease and population group.
