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

Over 175 pathogenic mutations in the Peripherin-2 ( 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 gene mutations. We identified a new mutation, c.824_828+3delinsCATTTGGGCTCCTCATTT...

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Bibliographic Details
Published in:Genes 2020-07, Vol.11 (7), p.773
Main Authors: Coco-Martin, Rosa M, Sanchez-Tocino, Hortensia T, Desco, Carmen, Usategui-Martín, Ricardo, Tellería, Juan J
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
ATP-Binding Cassette Transporters - genetics
Atrophy
Disease
Dystrophy
Family medical history
Female
Genes
Genes, Modifier
Genetic counseling
Genotype & phenotype
Genotypes
Humans
Male
Middle Aged
Mutation
Patients
Peripherin
Peripherins - genetics
Phenotype
Phenotypes
Point mutation
Proteins
Retina
Retinal Diseases - genetics
Retinal Diseases - pathology
Retinitis
Retinitis pigmentosa
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Summary:Over 175 pathogenic mutations in the Peripherin-2 ( 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 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 ( ) gene that cause extensive chorioretinal atrophy (ECA), which could be a blended phenotype. The p.Lys154del gene mutation associated with the p.Arg2030Glu mutation in the gene was found in a patient with multifocal pattern dystrophy simulating fundus flavimaculatus (PDsFF), for whom we considered 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.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes11070773