International medical case reports journal · 2018
Novel codon 15 RHO gene mutation associated with retinitis pigmentosa.
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Vilela Manuel Ap, Menna Barreto Roberta K, Menna Barreto Pedro K, Sallum Juliana Mf, Mattevi Vanessa S
Аннотация
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.
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.