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Maria Moussalli; Autosomal dominant Retinitis Pigmentosa caused by a deletion not reported in the human rhodopsin gene: a case report. Invest. Ophthalmol. Vis. Sci. 2016;57(12):3142.
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© ARVO (1962-2015); The Authors (2016-present)
Gene rhodopsin (RHO) was the first described gene associated to Retinitis Pigmentosa (RP). Most of the mutant alleles with these characteristics found in RHO, produce RP with an autosomal dominant inheritance. The aim of this study was to analyze the presence of any mutation compatible with the presence of the pathology, in a panel of genes known to be involved into retinal dystrophies development, in a patient whose fundus presented signs consistent with retinitis pigmentosa with atypical pattern
We studied a 29 years old masculine adolescent who has a family history of RP. The visual acuity in the right eye of 20/20 and in the left of 20/25, bilateral fundus peripheral spicules and altered epithelium drusen in the left eye. The Optical Coherence Tomography Heidelberg Spectralis,revealed bilaterally alteration of the previous profile and a loss of parallelism of the retinal layers and atrophy. Multifocal Electroretinography evidenced bilateral generalized depression. Genetic sequence test was performed by Next Generation Sequencing (NGS). In the test there were examined 95% of the target genes with a sensitivity of 99%. Partial panel of genes studied included: RP1, RP2, RPGR, RHO, PRPH2, ROM1, RP9 and IMPDH1
NGS study detected c.1025_1029delCGAGC(p.Ser343Glyfs*9) heterozygous deletion in exon 5 of the RHO gene. The mutation was analyzed by Mutation Taster software resulting in a prediction of being disease causing with a probability of more than 0.9997. Resulting reading frame shift, generates a predicted premature stop codon probably generating a truncated nonfunctional protein. This mutation has not been reported neither in ExAC, ClinVAr nor in 1000G so it could be excluded to be a polymorphism
We found a mutation in a patient with clinical characteristics of RP in one of the candidate genes that could produce an important alteration in the protein structure and function as we can presume due to the kind of alteration present, a deletion with frame shift resulting in a premature stop codon. The biopredictor analysis supports that assumption.This case demonstrates the importance of genetic testing in a patient with clinical symptoms of atypical RP. The yield of genetic testing is not only a useful tool in the diagnosis, prognosis and treatment of RP but also allows future genetic counseling for the family
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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