A new study from Singapore identified a novel genetic variant in people of Southern Chinese heritage that causes a type of inherited vision loss termed retinitis pigmentosa (RP). This form of RP affects families across multiple generations. The change was found in numerous unrelated families but arose from a common ancestor. Because most Chinese people in Singapore have roots in Southern China, this change may also be common there and in people of Southern Chinese descent elsewhere in the world. This new discovery will facilitate genetic diagnosis and family counselling, and may also prompt development of targeted therapies. (By Dr. Beau J Fenner, https://jmg.bmj.com/content/early/2025/06/03/jmg-2025-110775 )
Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese
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