2022
DOI: 10.1093/hmg/ddac227
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Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

Abstract: Purpose: To identify, using genome sequencing (GS), likely pathogenic non-coding variants in inherited retinal dystrophy (IRD) genes Methods: Patients with IRD were recruited to the study and underwent comprehensive ophthalmological evaluation and GS. The results of GS were investigated through virtual gene panel analysis and plausible pathogenic variants and clinical phenotype evaluated by multi-disciplinary team (MDT) discussion. For unsolved patients in whom a specific gene was suspected to harbour a missed… Show more

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Cited by 12 publications
(13 citation statements)
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“…Four of these variants were found to alter splicing in genes linked to autosomal dominant ( PRPF31 ), autosomal recessive ( NMNAT1 ), and X-linked ( NDP ) disease. The NDP :c.-70G>A and PRPF31 :c.-9+1G>A variants have recently been described by Daich Varela et al (2023) [ 49 ]. In particular, the authors of this study also predicted a deleterious effect on splicing for these variants, which could not be functionally validated as it was not possible to obtain fresh samples from the patients for further analysis.…”
Section: Resultsmentioning
confidence: 99%
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“…Four of these variants were found to alter splicing in genes linked to autosomal dominant ( PRPF31 ), autosomal recessive ( NMNAT1 ), and X-linked ( NDP ) disease. The NDP :c.-70G>A and PRPF31 :c.-9+1G>A variants have recently been described by Daich Varela et al (2023) [ 49 ]. In particular, the authors of this study also predicted a deleterious effect on splicing for these variants, which could not be functionally validated as it was not possible to obtain fresh samples from the patients for further analysis.…”
Section: Resultsmentioning
confidence: 99%
“…Given the emerging role of non-coding variation underlying IRDs [ 46 , 49 , 52 55 ] and the essential regulatory function of 5’UTRs [ 2 , 6 ], we set out to evaluate their contribution to this heterogeneous group of disorders by analyzing, systematically annotating, filtering, and prioritizing 5’UTR variants in two large IRD cohorts in combination with different experimental approaches for functional validation.…”
Section: Discussionmentioning
confidence: 99%
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“…All individuals and their genetic testing results were discussed in multidisciplinary team meetings, other candidate genes and variants were ruled out, and PHYH :c.678+5G>T was selected for further investigation. 26 …”
Section: Methodsmentioning
confidence: 99%