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PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene mutations. We identified a new mutation, c.824_828+3delinsCATTTG...

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Autores principales: Coco-Martin, Rosa M., Sanchez-Tocino, Hortensia T., Desco, Carmen, Usategui-Martín, Ricardo, Tellería, Juan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397286/
https://www.ncbi.nlm.nih.gov/pubmed/32660024
http://dx.doi.org/10.3390/genes11070773
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author Coco-Martin, Rosa M.
Sanchez-Tocino, Hortensia T.
Desco, Carmen
Usategui-Martín, Ricardo
Tellería, Juan J.
author_facet Coco-Martin, Rosa M.
Sanchez-Tocino, Hortensia T.
Desco, Carmen
Usategui-Martín, Ricardo
Tellería, Juan J.
author_sort Coco-Martin, Rosa M.
collection PubMed
description Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene mutations. We identified a new mutation, c.824_828+3delinsCATTTGGGCTCCTCATTTGG, in a patient with adult-onset vitelliform macular dystrophy (AVMD). One family with the p.Arg46Ter mutation presented with the already described AVMD phenotype, but another family presented with the same mutation and two heterozygous pathogenic mutations (p.Leu2027Phe and p.Gly1977Ser) in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) gene that cause extensive chorioretinal atrophy (ECA), which could be a blended phenotype. The p.Lys154del PRPH2 gene mutation associated with the p.Arg2030Glu mutation in the ABCA4 gene was found in a patient with multifocal pattern dystrophy simulating fundus flavimaculatus (PDsFF), for whom we considered ABCA4 as a possible modifying gene. The mutation p.Gly167Ser was already known to cause pattern dystrophy, but we also found ECA, PDsFF, and autosomal-dominant retinitis pigmentosa (ADRP) as possible phenotypes. Finally, we identified the mutation p.Arg195Leu in a large family with common ancestry, which previously was described to cause central areolar choroidal dystrophy (CACD), but we also found ADRP and observed that it caused ECA more frequently than CACD in this family.
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spelling pubmed-73972862020-08-16 PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation Coco-Martin, Rosa M. Sanchez-Tocino, Hortensia T. Desco, Carmen Usategui-Martín, Ricardo Tellería, Juan J. Genes (Basel) Article Over 175 pathogenic mutations in the Peripherin-2 (PRPH2) gene are linked to various retinal diseases. We report the phenotype and genotype of eight families (24 patients) with retinal diseases associated with seven distinct PRPH2 gene mutations. We identified a new mutation, c.824_828+3delinsCATTTGGGCTCCTCATTTGG, in a patient with adult-onset vitelliform macular dystrophy (AVMD). One family with the p.Arg46Ter mutation presented with the already described AVMD phenotype, but another family presented with the same mutation and two heterozygous pathogenic mutations (p.Leu2027Phe and p.Gly1977Ser) in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) gene that cause extensive chorioretinal atrophy (ECA), which could be a blended phenotype. The p.Lys154del PRPH2 gene mutation associated with the p.Arg2030Glu mutation in the ABCA4 gene was found in a patient with multifocal pattern dystrophy simulating fundus flavimaculatus (PDsFF), for whom we considered ABCA4 as a possible modifying gene. The mutation p.Gly167Ser was already known to cause pattern dystrophy, but we also found ECA, PDsFF, and autosomal-dominant retinitis pigmentosa (ADRP) as possible phenotypes. Finally, we identified the mutation p.Arg195Leu in a large family with common ancestry, which previously was described to cause central areolar choroidal dystrophy (CACD), but we also found ADRP and observed that it caused ECA more frequently than CACD in this family. MDPI 2020-07-09 /pmc/articles/PMC7397286/ /pubmed/32660024 http://dx.doi.org/10.3390/genes11070773 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Coco-Martin, Rosa M.
Sanchez-Tocino, Hortensia T.
Desco, Carmen
Usategui-Martín, Ricardo
Tellería, Juan J.
PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation
title PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation
title_full PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation
title_fullStr PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation
title_full_unstemmed PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation
title_short PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation
title_sort prph2-related retinal diseases: broadening the clinical spectrum and describing a new mutation
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397286/
https://www.ncbi.nlm.nih.gov/pubmed/32660024
http://dx.doi.org/10.3390/genes11070773
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