Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
USH2A
inherited retinal dystrophies
next generation sequencing
pericentral retinitis pigmentosa
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
20 Dec 2019
20 Dec 2019
Historique:
received:
10
10
2019
revised:
12
12
2019
accepted:
19
12
2019
entrez:
28
12
2019
pubmed:
28
12
2019
medline:
16
5
2020
Statut:
epublish
Résumé
Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. Pericentral RP is an atypical form of RP characterized by bone-spicule pigmentation and/or atrophy confined in the near mid-periphery of the retina. In contrast to classic RP, the far periphery is better preserved in pericentral RP. The aim of this study was to perform the first detailed clinical and genetic analysis of a cohort of European subjects with pericentral RP to determine the phenotypic features and the genetic bases of the disease. A total of 54 subjects from 48 independent families with pericentral RP, non-syndromic and syndromic, were evaluated through a full ophthalmological examination and underwent clinical exome or retinopathy gene panel sequencing. Disease-causative variants were identified in 22 of the 35 families (63%) in 10 different genes, four of which are also responsible for syndromic RP. Thirteen of the 34 likely pathogenic variants were novel. Intra-familiar variability was also observed. The current study confirms the mild phenotype of pericentral RP and extends the spectrum of genes associated with this condition.
Identifiants
pubmed: 31877679
pii: ijms21010086
doi: 10.3390/ijms21010086
pmc: PMC6982348
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Fondazione Telethon
ID : -
Organisme : Fondazione Roma
ID : -
Organisme : Ministero dell'Istruzione, dell'Università e della Ricerca
ID : PRIN 2015
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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