Article
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.
Cold Spring Harbor molecular case studies - 1 Aug 2018
Zernant Jana, Lee Winston, Nagasaki Takayuki, Collison Frederick T, Fishman Gerald A, Bertelsen Mette, Rosenberg Thomas, Gouras Peter, Tsang Stephen H, Allikmets Rando
Abstract excerpt
Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of the ABCA4 locus in STGD1 patients identifies two expected disease-causing alleles in ∼75% of patients and only one mutation in ∼15% of patients. Recently, many possibly pathogenic variants in deep intronic sequences of ABCA4 have been identified in the latter group. We extended our analyses...
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