Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease

• Published in: Human molecular genetics Vol. 30; no. 14; pp. 1293 - 1304
• Main Authors: Lee, Winston, Zernant, Jana, Nagasaki, Takayuki, Molday, Laurie L, Su, Pei-Yin, Fishman, Gerald A, Tsang, Stephen H, Molday, Robert S, Allikmets, Rando
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 26.06.2021
• Subjects: Alleles; ATP-Binding Cassette Transporters - genetics; Gene Frequency; Humans; Mutation; Penetrance; Phenotype; Stargardt Disease - genetics

Abstract Over 1200 variants in the ABCA4 gene cause a wide variety of retinal disease phenotypes, the best known of which is autosomal recessive Stargardt disease (STGD1). Disease-causing variation encompasses all mutation categories, from large copy number variants to very mild, hypomorphic missens...