Article
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.
Investigative ophthalmology & visual science - 2 Aug 2022
Martin-Gutierrez Maria Pilar, Schiff Elena R, Wright Genevieve, Waseem Naushin, Mahroo Omar A, Michaelides Michel, Moore Anthony T, Webster Andrew R, Arno Gavin
Abstract excerpt
Purpose: Autosomal dominant cone rod dystrophy 7 (CORD7) was initially linked to the gene RIMS1 and reported in a 4-generation British family in 1998. The purpose of this study was to investigate the legitimacy of this association, and to correctly characterize the genetic cause of this condition. Methods: The allele frequency of RIMS1 c.2459G>A, p.Arg820His, was investigated in the Genomes Aggregation Dataset...
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