Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
aberrant splicing
inherited retinal dystrophies
minigenes
non-canonical splice sites
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
31 03 2020
31 03 2020
Historique:
received:
24
02
2020
revised:
22
03
2020
accepted:
28
03
2020
entrez:
5
4
2020
pubmed:
5
4
2020
medline:
27
3
2021
Statut:
epublish
Résumé
We aimed to validate the pathogenicity of genetic variants identified in inherited retinal dystrophy (IRD) patients, which were located in non-canonical splice sites (NCSS). After next generation sequencing (NGS) analysis (target gene panels or whole exome sequencing (WES)), NCSS variants were prioritized according to Four novel NCSS variants have been identified. They are located in intron 33 and 34 of Our data increase the genetic diagnostic yield of IRD patients and expand the landscape of pathogenic variants, which will have an impact on the genotype-phenotype correlations and allow patients to opt for the emerging gene and cell therapies.
Identifiants
pubmed: 32244552
pii: genes11040378
doi: 10.3390/genes11040378
pmc: PMC7231145
pii:
doi:
Substances chimiques
ABCA4 protein, human
0
ATP-Binding Cassette Transporters
0
Cell Cycle Proteins
0
Membrane Proteins
0
POC1B protein, human
0
RP2 protein, human
0
GTP-Binding Proteins
EC 3.6.1.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
The authors hereby declare that there is no competing interest.
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