RETRACTED: Novel loss of function mutation in MERTK gene, the first report of an Iranian family with an autosomal recessive inheritance of retinitis pigmentosa

Abstract

Purpose: Retinitis pigmentosa is categorized in a group of inherited progressive retinal atrophy with 1 in 3500 incidence worldwide. So far, multiple genes and loci linked to RP have been reported. Mutations of MERTK gene are responsible for approximately 1% of the autosomal recessive pattern. The purpose of this study was detection of gene mutation corresponding for Retinitis Pigmentosa in an Iranian family with autosomal recessive pattern. Method: We presented a clinical genetic study of an Iranian man manifested with loss of both central vision and far peripheral visual field. A mutational analysis of MERTK gene was performed by Roche NimbleGen's (Madison, WI) custom Sequence Capture Human Array followed by Sanger sequencing to investigate the pathogenic variant in proband. Furthermore, a virtual bioinformatics study was performed on RNA fold, secondary structure and Ramachandran protein prediction model. Result: The results revealed a novel homozygous deletion in Exon 10 of MERTK gene (c.1459_1460delGA; p.Asp487Leufs*57) that possibly has pathogenic effects on patients which are consistent with the clinical diagnosis. Furthermore, bioinformatics analysis revealed a significant and statistically differences between secondary structure of RNA fold and predicted protein model in normal and mutant variant. Conclusion: Genetic heterogeneity of RP makes its diagnosis and treatment complicated. A comprehensive understanding of the potential mutations can lower this burden. The result of our investigation stated that this novel deletion has a pathogenic effect on presented proband and may help researchers in providing a diagnosis for other unsolved RP cases and treatment of MERTK associated Retinitis Pigmentosa.