Matches in SemOpenAlex for { <https://semopenalex.org/work/W2587202392> ?p ?o ?g. }
- W2587202392 abstract "Abstract Inherited retinal dystrophies (IRD) comprise a wide group of clinically and genetically complex diseases that progressively affect the retina. Over recent years, the development of next-generation sequencing (NGS) methods has transformed our ability to diagnose heterogeneous diseases. In this work, we have evaluated the implementation of whole exome sequencing (WES) for the molecular diagnosis of IRD. Using Ion Proton TM system, we simultaneously analyzed 212 genes that are responsible for more than 25 syndromic and non-syndromic IRD. This approach was used to evaluate 59 unrelated families, with the pathogenic variant(s) successfully identified in 71.18% of cases. Interestingly, the mutation detection rate varied substantially depending on the IRD subtype. Overall, we found 63 different mutations (21 novel) in 29 distinct genes, and performed in vivo functional studies to determine the deleterious impact of variants identified in MERTK, CDH23 , and RPGRIP1 . In addition, we provide evidences that support CDHR1 as a gene responsible for autosomal recessive retinitis pigmentosa with early macular affectation, and present data regarding the disease mechanism of this gene. Altogether, these results demonstrate that targeted WES of all IRD genes is a reliable, hypothesis-free approach, and a cost- and time-effective strategy for the routine genetic diagnosis of retinal dystrophies." @default.
- W2587202392 created "2017-02-17" @default.
- W2587202392 creator A5000239053 @default.
- W2587202392 creator A5016589606 @default.
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- W2587202392 creator A5073386547 @default.
- W2587202392 creator A5081796482 @default.
- W2587202392 creator A5090470413 @default.
- W2587202392 date "2017-02-09" @default.
- W2587202392 modified "2023-10-16" @default.
- W2587202392 title "Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies" @default.
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- W2587202392 doi "https://doi.org/10.1038/srep42078" @default.
- W2587202392 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5299602" @default.
- W2587202392 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28181551" @default.
- W2587202392 hasPublicationYear "2017" @default.
- W2587202392 type Work @default.