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What is COL2A1 Mutation in Stickler Syndrome about?

This study identifies a pathogenic mutation in the COL2A1 gene responsible for Stickler syndrome in a Vietnamese family, affecting a father and his son. Whole exome sequencing revealed the c.C2818T/p.R940X variant, previously associated with the syndrome, leading to severe ocular symptoms including retinal detachment and high myopia. The findings underscore the importance of genetic counseling and early diagnosis to manage the condition and prevent complications such as blindness.

Author

Đạt Trịnh

Language

EN