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Liping Yang; Simultaneous expression of ABCA4 and USH2A mutations in one sporadic RP patient. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2774.
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To describe a complex, overlapping phenotype expressed in a sporadic RP patient who harboring pathogenic mutations in the ABCA4 and USH2A genes.
A specific hereditary eye disease enrichment panel (HEDEP) based on exome capture technology was used to collect the protein coding regions of 441 targeted hereditary eye disease genes, followed by high-throughput sequencing on the Illumina HiSeq2000 platform. Four potential disease causing mutations were identified. Segregation analysis was done in the available family members and a large cohort of controls with Sanger sequencing.
Affected individuals presented with bull’s eye lesions and typical bone-spicule pigment deposition in the med-peripheral retina. HEDEP analysis demonstrated that the patient carried two compound heterozygous mutations both in ABCA4 (c.6088C>T;p.R2030* and c.5318C>T; p.A1773V ) and USH2A (c.4758+3A>G and c.1624A>G;p.S542G). The mutations p.R2030* and p.S542G were inherited from his father, and the mutations p.A1773V and c.4758+3A>G were inherited from his mother. Both his father and mother were unaffected.
An individual carrying both ABCA4 and USH2A disease-causing mutations can express a complex, overlapping phenotype associated with both Stargardt disease and RP.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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