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What gene is affected by Stickler syndrome?

What gene is affected by Stickler syndrome?

Stickler syndrome type I (STL1) is responsible for approximately 70% of reported cases and presents with a wide variety of symptoms affecting the eye, ear, facial appearance, palate and musculoskeletal system and occurs due to mutations over the entire COL2A1 gene on chromosome 12q13. 11.

Is Stickler syndrome hereditary?

Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood.

Is Stickler syndrome dominant or recessive?

Stickler syndrome types I, II, and III are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation from one affected parent . Other cases result from new mutations .

Can Stickler syndrome be detected before birth?

Molecular genetic testing can be used to diagnose Stickler syndrome. A clinical geneticist can discuss this in detail with you and arrange for it, if appropriate. Your doctor may suggest it to confirm a suspected diagnosis or for prenatal diagnosis.

What is Stickler syndrome life expectancy?

A: Stickler syndrome doesn’t affect your child’s life expectancy, but it is a progressive condition, which means that your child’s symptoms may get worse with time. That said, we have many methods of treating those symptoms and, with help, your child can live a healthy, happy life.

Is Stickler syndrome fatal?

While the symptoms of Stickler syndrome are generally not life threatening, your child may be at a higher risk for retinal detachment, a condition that can cause blindness if left untreated.

Can Stickler syndrome be prevented?

You cannot prevent Stickler syndrome. People with a family history of the condition who want to have children should seek genetic counseling to learn about the risk of having a child with the disorder.