Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Leber congenital amaurosis
achromatopsia
inherited blindness
inherited retinal degenerations
paediatric ophthalmology
panel-based next generation sequencing
retinal dystrophy
retinitis pigmentosa
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
29 03 2022
29 03 2022
Historique:
received:
31
01
2022
revised:
21
03
2022
accepted:
23
03
2022
entrez:
23
4
2022
pubmed:
24
4
2022
medline:
27
4
2022
Statut:
epublish
Résumé
Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a "telegenetics" approach. Genetic testing approach was panel-based next generation sequencing (351 genes) via a commercial laboratory (Blueprint Genetics, Helsinki, Finland). Of 70 patient samples from 57 pedigrees undergoing genetic testing, a causative genetic variant(s) was detected for 60 patients (85.7%) from 47 (82.5%) pedigrees. Of the 60 genetically resolved IRD patients, 5% (
Identifiants
pubmed: 35456422
pii: genes13040615
doi: 10.3390/genes13040615
pmc: PMC9033125
pii:
doi:
Substances chimiques
Antigens, Neoplasm
0
Cell Cycle Proteins
0
Cep290 protein, human
0
Cytoskeletal Proteins
0
Eye Proteins
0
RPGR protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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