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 @entity179 (RDD) biorepository in South Africa. A low rate of mutation detection has been observed in @entity1 of indigenous African origin, hinting at novel genes and mutations in this population. Recently, however, data from our translational research program showed two unrelated indigenous African families with @entity15439 ( @entity15439 ), with the same homozygous @entity30262 mutation. Therefore, the extent to which this mutation contributes toward the disease burden in South Africa was investigated. METHODS: Cohorts of unrelated indigenous South African probands with different RDD diagnoses were tested for the @entity30262 @entity68781 mutation. Familial cosegregation analysis was performed for homozygous probands, clinical data were evaluated, and SNP haplotypes were analyzed. RESULTS: This homozygous @entity30262 mutation underlies a remarkable 43% of indigenous African @entity15439 cases investigated in this study, the majority of which (60%) were diagnosed clinically with Type 2 @entity15439 . All homozygotes shared a common haplotype. This mutation does not appear to cause @entity1018 . CONCLUSIONS: Of interest is the origin of this common mutation relevant to the Bantu population migration into southern Africa. Further investigation of the phenotype may elucidate the disease biology, and perhaps reveal a larger cohort with the same mutation, with which to assess the impact of environmental and genetic modifiers and evaluate therapeutic trials.

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

@entity1 :: ('9606', 'Species') :: ['patients'] @entity1018 :: ('MESH:D054062', 'Disease') :: ['nonsyndromic vision loss'] @entity15439 :: ('MESH:D052245', 'Disease') :: ['Usher syndrome', 'USH'] @entity68781 :: ('c|DEL|6377|C', 'DNAMutation') :: ['c.6377delC'] @entity179 :: ('MESH:D019636', 'Disease') :: ['Degenerative Diseases'] @entity30262 :: ('4647', 'Gene') :: ['MYO7A']
@entity30262 :: (4647,Gene) :: ['MYO7A']
