Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

• Published in: Human molecular genetics Vol. 22; no. 25; pp. 5136 - 5145
• Main Authors: Braun, Terry A., Mullins, Robert F., Wagner, Alex H., Andorf, Jeaneen L., Johnston, Rebecca M., Bakall, Benjamin B., Deluca, Adam P., Fishman, Gerald A., Lam, Byron L., Weleber, Richard G., Cideciyan, Artur V., Jacobson, Samuel G., Sheffield, Val C., Tucker, Budd A., Stone, Edwin M.
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 20.12.2013
• Subjects: Adult; Aged, 80 and over; Alleles; Alternative Splicing - genetics; ATP-Binding Cassette Transporters - genetics; DNA; Exome - genetics; Exons - genetics; Female; Haplotypes; Humans; Macular Degeneration - genetics; Macular Degeneration - physiopathology; Male; Mutation; Pedigree; Retina - pathology; RNA Splice Sites - genetics
• ISSN: 0964-6906; 1460-2083; 1460-2083
• DOI: 10.1093/hmg/ddt367

Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in patients with clinical features of Stargardt disease sometimes fails to detect one or both mutations. For example, among 208 individuals with cl...