PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

Abstract excerpt

Stickler syndrome is an autosomal dominant disease with ocular (severe myopia, vitreal degeneration, and retinal detachment) and other systemic manifestations (hearing loss, cleft palate, epiphyseal dysplasia, and premature osteoarthritis). As with other dominantly inherited conditions, the clinical phenotype of Stickler syndrome varies considerably. To date, all mutations have been located in the type II...

Topics

• DNA Mutational Analysis
• Female
• Genetic Variation
• Humans
• Infant, Newborn
• Male
• Micrognathism
• Pedigree
• Phenotype
• Pierre Robin Syndrome
• Point Mutation