Mutation screening of six exons of ABCA4 in Iranian Stargardt patients

Stargardt disease (STGD1) is an inherited disease of the retina which manifests during childhood or early adolescence. It causes progressive degeneration of the macular and progressive loss of vision. The disease is usually caused by mutations in the ABCA4 gene that encodes a member of the ATP-binding cassette transporter gene sub-family A (ABC1) exclusively expressed in retina and localized in outer segment of rod and cone photoreceptors. The gene contains at least 50 exons and spans an estimated 150 kb. Results of screenings of ABCA4 in Stargart patients have identified aims to identify ABCA4 mutations that are most commonly found in exons 3,6,10,12,13 and 42. The present screens these exons in Iranian Stargardt patients.Methods: A total of 17 unrelated Iranian Stargardt patients diagnosed by retina specialists (ND and HA) were recruited for genetic analysis. Exons 3,6,10,12,13 and 42 were PCR amplified and sequenced by the Sanger method.Results: A mutation that causes p.G1961R was identified in the homozygous state in one patient and a mutation that causes p.G1961E was identified in the heterozygous state in two patients. A second mutation in the screened exons of ABCA4 was not identified in the latter two patientsConclusion: The p.G1961E that has previously been reported in Stargardt patients of various populations, may be a common mutation among Iranian patients. Further screenings will identify the most common ABCA4 mutations among