Novel codon 15 RHO gene mutation associated with retinitis pigmentosa
| Autor: | Vanessa S Mattevi, Pedro Kern Menna Barreto, Roberta Kern Menna Barreto, Manuel Vilela, Juliana Mf Sallum |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
genetic structures Case Report Gene mutation tapetoretinal degeneration 03 medical and health sciences Exon 0302 clinical medicine Retinitis pigmentosa medicine Rod-cone dystrophy pigmentary retinopathy retinal pigments Transversion Gene Genetics opsins business.industry General Medicine medicine.disease eye diseases Posterior segment of eyeball 030104 developmental biology Mutation (genetic algorithm) 030221 ophthalmology & optometry rod-cone dystrophy business |
| Zdroj: | International Medical Case Reports Journal |
| ISSN: | 1179-142X |
| Popis: | Objective To describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa. Methods Case report. Retrospective data analysis. Results The mutation is located within codon 15 of exon 1 of the RHO gene. A single base-pair transversion lead to a specific lysine-for-asparagine substitution (Asn15Lys). Hypoacusis, myopia, dyschromatopsis and diffuse retinitis pigmentosa were detected. Detailed multimodal images for the posterior segment are presented. Conclusion We present a new mutation with a specific substitution that may cause eye disease and which has not been described previously. There is no description of this variant in the genetic databases. |
| Databáze: | OpenAIRE |
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