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NS Udar, M Chalukya, V Yellore, S Yelchits, R Silva-Garcia, N Small, V Puech, B Puech, K Small; ELOVL4 Mutation Screening for the North Carolina Macular Dystrophy Phenotype . Invest. Ophthalmol. Vis. Sci. 2002;43(13):814.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose:North Carolina Macular Dystrophy (MCDR1) is a autosomal dominant macular dystrophy localized on human chromosome 6. The phenotype is characterized by bilaterally symmetrical but highly variable macular degeneration ranging from drusen to staphylomata. The peripheral retina can be variably abnormal. ELOVL4, a gene on chromosome 6, is responsible for causing dominant Stargardt macular dystrophy (STGD3). This photo receptor specific elongation factor of very-long-chain fatty acid has also recently been reported to be involved in causing adSTGD-like dystrophy. Since MCDR1 also has a phenotype overlapping in some clinical characteristics with STGD and localizing to 6q14-21, we carried out mutation screening of 22 individuals with MCDR1 families. Each individual represents a different family. We sequenced the entire gene including the 3'UTR and 5'UTR in all the individuals.We also screened a control population for these variation and calculated their frequencies. Methods:Using intronic primers, exons were amplified from genomic DNA and sequenced. Results:We found many base changes within the gene in these individuals. None of these changes were found to affect the protein, nor did they segregated with the disease phenotype. Most of the changes were present in Exon 6 of the gene. Conclusion:We found no mutations in the ELOVL4 gene that could cause MCDR1.
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