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Vilela MA, Menna Barreto RK, Menna Barreto PK, et al. Novel codon 15 RHO gene mutation associated with retinitis pigmentosa. Int Med Case Rep J. 2018;11:339-344doi: 10.2147/IMCRJ.S179105.
Vilela, M. A., Menna Barreto, R. K., Menna Barreto, P. K., Sallum, J. M., & Mattevi, V. S. (2018). Novel codon 15 RHO gene mutation associated with retinitis pigmentosa. International medical case reports journal, 11339-344. https://doi.org/10.2147/IMCRJ.S179105
Vilela, Manuel Ap, et al. "Novel codon 15 RHO gene mutation associated with retinitis pigmentosa." International medical case reports journal vol. 11 (2018): 339-344. doi: https://doi.org/10.2147/IMCRJ.S179105
Vilela MA, Menna Barreto RK, Menna Barreto PK, Sallum JM, Mattevi VS. Novel codon 15 RHO gene mutation associated with retinitis pigmentosa. Int Med Case Rep J. 2018 Nov 20;11:339-344. doi: 10.2147/IMCRJ.S179105. eCollection 2018. PMID: 30538586; PMCID: PMC6251460.
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Int Med Case Rep J. 2018 Nov 20;11:339-344. doi: 10.2147/IMCRJ.S179105. eCollection 2018.

Novel codon 15 RHO gene mutation associated with retinitis pigmentosa.

International medical case reports journal

Manuel Ap Vilela, Roberta K Menna Barreto, Pedro K Menna Barreto, Juliana Mf Sallum, Vanessa S Mattevi

Affiliations

  1. Department of Ophthalmology, Federal Health Sciences University of Porto Alegre, Porto Alegre, Brazil, [email protected].
  2. Medical School, Federal University of Rio Grande do Sul, Rio Grande do Sul, Brazil.
  3. Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.

PMID: 30538586 PMCID: PMC6251460 DOI: 10.2147/IMCRJ.S179105

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 (

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.

Keywords: opsins; pigmentary retinopathy; retinal pigments; rod-cone dystrophy; tapetoretinal degeneration

Conflict of interest statement

Disclosure Manuel AP Vilela, Roberta K Menna Barreto, Pedro K Menna Barreto, Vanessa S Mattevi, and Juliana MF Sallum certify that they have no affiliations with or involvement in any organization or

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