Molecular analysis of ABCA4 gene in an Iranian cohort with Stargardt disease

Abstract

IntroductionThe most prevalent cause of autosomal recessive juvenile maculopathy is a retinal disease known as Stargardt disease (STGD1; OMIM 248200). The aim of this prospective, this study was performed to investigate the spectrum of mutations in ABCA4 gene in an Iranian Stargardt (STGD1) cohort. MethodsSeventeen families with at least one patient affected with STGD1 were included in the study for molecular analysis. Whole exome sequencing was performed for genotype determination in one patient. DNA Sanger sequencing was performed for confirmation of the mutation in the proband and the parents. The identified pathogenic variant was also screened in the other patients enrolled in the study. ResultsRecessive variant c.5882 G > A (p. Gly1961Glu) was found in homozygous and heterozygous forms in the proband and the parents, respectively. The results of short tandem repeat (STR) markers showed that the disease in the family is linked to the ABCA4 gene. This variant was also detected in six unrelated patients in heterozygous form. Conclusionc.5882 G > A (p. Gly1961Glu) is a common variant in Iranian patients with STGD1. The data of the study will improve the molecular insights of the disease in Iranian population and further deep molecular studies on the larger number of patients can provide genetic counseling for the families.