Novel codon 15 RHO gene mutation associated with retinitis pigmentosa.
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ABSTRACT: 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.
SUBMITTER: Vilela MA
PROVIDER: S-EPMC6251460 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Novel codon 15 RHO gene mutation associated with retinitis pigmentosa.
Vilela Manuel Ap MA Menna Barreto Roberta K RK Menna Barreto Pedro K PK Sallum Juliana Mf JM Mattevi Vanessa S VS
International medical case reports journal 20181120
<h4>Objective</h4>To describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa.<h4>Methods</h4>Case report. Retrospective data analysis.<h4>Results</h4>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 (<i>Asn15Lys</i>). Hypoacusis, myopia, dyschromatopsis and diffuse retinitis pigmentosa were detected. Detailed mul ...[more]
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