RT info:eu-repo/semantics/article
T1 PRPH2-related retinal diseases: broadening the clinical spectrum and describing a new mutation
A1 Coco Martín, Rosa María
A1 Sánchez Tocino, Hortensia Trinidad
A1 Desco, Carmen
A1 Usategui Martín, Ricardo
A1 Tellería Orriols, Juan José
K1 ABCA4; AVMD; CACD; PRPH2; blended phenotypes; extensive chorioretinal atrophy; inherited retinal diseases; pattern dystrophy simulating FF.
K1 3201.09 Oftalmología
AB ABSTRACT: 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.
PB MDPI
SN 2073-4425
YR 2020
FD 2020-07
LK https://uvadoc.uva.es/handle/10324/68938
UL https://uvadoc.uva.es/handle/10324/68938
LA eng
NO Genes (Basel), Jul, 2020, vol. 11, n.7, Nº artículo:  E773 (24 pag).
NO Producción Científica
DS UVaDOC
RD 27-dic-2024