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Article

A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora.

Investigative ophthalmology & visual science - 1 Oct 2015

Roberts Lisa, George Siddiqah, Greenberg Jacquie, Ramesar Raj S

Abstract excerpt

PURPOSE: Research over the past 25 years at the University of Cape Town has led to the identification of causative mutations in 17% of the 1416 families in the Retinal Degenerative Diseases (RDD) biorepository in South Africa. A low rate of mutation detection has been observed in patients of indigenous African origin, hinting at novel genes and mutations in this population. Recently, however, data from our...

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PMID: 26469752
DOI: 10.1167/iovs.15-17028

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