The Role of Genetic Mutations in Genes COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3 in Stickler Syndrome

Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. Stickler syndrome is caused by genetic changes (mutations or pathogenic variants) in one of six genes: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, or COL9A3. These genes are all responsible for providing instructions to the body to produce collagen.

Keywords: Stickler syndrome, Genetics Mutations, COL2A1, COL11A, COL11A2, COL9A1, COL9A2, COL9A3 genes.