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11 results on '"Reurink, J.A."'

1. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

Author

Bruijn, S.E. de, Rodenburg, K., Corominas, J., Ben-Yosef, T., Reurink, J.A., Kremer, H., Whelan, L., Plomp, A.S., Berger, W., Farrar, G.J., Ferenc Kovács, Á., Fajardy, I., Hitti-Malin, R.J., Weisschuh, N., Weener, M.E., Sharon, D., Pennings, R.J.E., Haer-Wigman, L., Hoyng, C.B., Nelen, M.R., Vissers, L.E.L.M., Born, L.I. van den, Gilissen, C.F.H.A., Cremers, F.P.M., Hoischen, A., Neveling, K., Roosing, S., Bruijn, S.E. de, Rodenburg, K., Corominas, J., Ben-Yosef, T., Reurink, J.A., Kremer, H., Whelan, L., Plomp, A.S., Berger, W., Farrar, G.J., Ferenc Kovács, Á., Fajardy, I., Hitti-Malin, R.J., Weisschuh, N., Weener, M.E., Sharon, D., Pennings, R.J.E., Haer-Wigman, L., Hoyng, C.B., Nelen, M.R., Vissers, L.E.L.M., Born, L.I. van den, Gilissen, C.F.H.A., Cremers, F.P.M., Hoischen, A., Neveling, K., and Roosing, S.

Abstract

Item does not contain fulltext, PURPOSE: Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that involvement of SVs in IRDs is higher than anticipated. We revisited short-read genome sequencing data to enhance the identification of gene-disruptive SVs. METHODS: Optical genome mapping was performed to improve SV detection in short-read genome sequencing-negative cases. In addition, reanalysis of short-read genome sequencing data was performed to improve the interpretation of SVs and to re-establish SV prioritization criteria. RESULTS: In a monoallelic USH2A case, optical genome mapping identified a pericentric inversion (173 megabase), with 1 breakpoint disrupting USH2A. Retrospectively, the variant could be observed in genome sequencing data but was previously deemed false positive. Reanalysis of short-read genome sequencing data (427 IRD cases) was performed which yielded 30 pathogenic SVs affecting, among other genes, USH2A (n = 15), PRPF31 (n = 3), and EYS (n = 2). Eight of these (>25%) were overlooked during previous analyses. CONCLUSION: Critical evaluation of our findings allowed us to re-establish and improve our SV prioritization and interpretation guidelines, which will prevent missing pathogenic events in future analyses. Our data suggest that more attention should be paid to SV interpretation and the current contribution of SVs in IRDs is still underestimated.

Published
2023

2. USH2A-associated disease: Genetics, pathogenesis and treatment

Author

Kremer, J.M.J., Cremers, F.P.M., Wijk, H.A.R. van, Roosing, S., Reurink, J.A., Kremer, J.M.J., Cremers, F.P.M., Wijk, H.A.R. van, Roosing, S., and Reurink, J.A.

Abstract

Radboud University, 06 april 2023, Promotores : Kremer, J.M.J., Cremers, F.P.M. Co-promotores : Wijk, H.A.R. van, Roosing, S., Contains fulltext : 291356.pdf (Publisher’s version ) (Closed access)

Published
2023

3. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Author

Panneman, D.M., Hitti-Malin, R.J., Holtes, L.K., Bruijn, S.E. de, Reurink, J.A., Boonen, E.G.M., Khan, M.I., Ali, M, Andréasson, S., Baere, E. De, Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., Bruyne, M. De, Cerda, B. de la, Coppieters, F., Farinelli, P., Guignard, T., Inglehearn, C.F., Karali, M., Kjellström, U., Koenekoop, R., Koning, B. de, Leroy, B.P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K.M., Poulter, J.A., Rivolta, C., Rodriguez de la Rúa, E., Saunders, P., Simonelli, F., Tatour, Y., Testa, F., Thiadens, A.A.H.J., Toomes, C., Tracewska, A.M., Tran, H.V., Ushida, H., Vaclavik, V., Verhoeven, V.J.M., Vorst, M. van de, Gilissen, C.F., Hoischen, A., Cremers, F.P.M., Roosing, S., Panneman, D.M., Hitti-Malin, R.J., Holtes, L.K., Bruijn, S.E. de, Reurink, J.A., Boonen, E.G.M., Khan, M.I., Ali, M, Andréasson, S., Baere, E. De, Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., Bruyne, M. De, Cerda, B. de la, Coppieters, F., Farinelli, P., Guignard, T., Inglehearn, C.F., Karali, M., Kjellström, U., Koenekoop, R., Koning, B. de, Leroy, B.P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K.M., Poulter, J.A., Rivolta, C., Rodriguez de la Rúa, E., Saunders, P., Simonelli, F., Tatour, Y., Testa, F., Thiadens, A.A.H.J., Toomes, C., Tracewska, A.M., Tran, H.V., Ushida, H., Vaclavik, V., Verhoeven, V.J.M., Vorst, M. van de, Gilissen, C.F., Hoischen, A., Cremers, F.P.M., and Roosing, S.

Abstract

Item does not contain fulltext, Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability. Previous studies have shown the cost-effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Methods: Here, we introduce a smMIPs panel that targets the exons and splice sites of all currently known genes associated with RP and LCA, the entire RPE65 gene, known causative deep-intronic variants leading to pseudo-exons, and part of the RP17 region associated with autosomal dominant RP, by using a total of 16,812 smMIPs. The RP-LCA smMIPs panel was used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases. Results and discussion: After genetic analysis, a diagnostic yield of 56% was obtained which is on par with results from WES analysis. The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing.

Published
2023

4. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Author

Reurink, J.A., Weisschuh, Nicole, Garanto, A., Dockery, A., Born, L.I. van den, Fajardy, Isabelle, Haer-Wigman, L., Klaver, C.C.W., Smits, J.J., Pennings, R.J.E., Aben, M.J., Oostrik, J., Astuti, G.D.N, Corominas, J., Phan, M., Zelst-Stams, W.A.G. van, Bruijn, S.E. de, Li, C.H.Z., Hoyng, C.B., Gilissen, C.F.H.A., Vissers, L.E.L.M., Cremers, F.P.M., Kremer, H., WIjk, E. van, Roosing, S., Reurink, J.A., Weisschuh, Nicole, Garanto, A., Dockery, A., Born, L.I. van den, Fajardy, Isabelle, Haer-Wigman, L., Klaver, C.C.W., Smits, J.J., Pennings, R.J.E., Aben, M.J., Oostrik, J., Astuti, G.D.N, Corominas, J., Phan, M., Zelst-Stams, W.A.G. van, Bruijn, S.E. de, Li, C.H.Z., Hoyng, C.B., Gilissen, C.F.H.A., Vissers, L.E.L.M., Cremers, F.P.M., Kremer, H., WIjk, E. van, and Roosing, S.

Abstract

Item does not contain fulltext

Published
2023

6. Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

Author

Reurink, J.A., Vrieze, E. de, Li, C.H.Z., Berkel, Emma van, Broekman, S., Aben, M.J., Peters, T.A., Oostrik, J., Neveling, K., Venselaar, H., Ramos, Mariana Guimarães, Gilissen, C.F.H.A., Astuti, G.D.N, Ockeloen, C.W., Haer-Wigman, L., Hoyng, C.B., Cremers, F.P.M., Kremer, H., Roosing, S., WIjk, E. van, Reurink, J.A., Vrieze, E. de, Li, C.H.Z., Berkel, Emma van, Broekman, S., Aben, M.J., Peters, T.A., Oostrik, J., Neveling, K., Venselaar, H., Ramos, Mariana Guimarães, Gilissen, C.F.H.A., Astuti, G.D.N, Ockeloen, C.W., Haer-Wigman, L., Hoyng, C.B., Cremers, F.P.M., Kremer, H., Roosing, S., and WIjk, E. van

Abstract

Item does not contain fulltext

Published
2022

7. Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Author

Velde, H.M., Reurink, J.A., Held, S., Li, C.H.Z., Yzer, S., Oostrik, J., Weeda, J.A., Haer-Wigman, L., Yntema, H.G., Roosing, S., Pauleikhoff, L., Lange, C de, Whelan, L., Dockery, A., Zhu, Z., Keegan, D.J., Farrar, G.J., Kremer, H., Lanting, C.P., Damme, M., Pennings, R.J.E., Velde, H.M., Reurink, J.A., Held, S., Li, C.H.Z., Yzer, S., Oostrik, J., Weeda, J.A., Haer-Wigman, L., Yntema, H.G., Roosing, S., Pauleikhoff, L., Lange, C de, Whelan, L., Dockery, A., Zhu, Z., Keegan, D.J., Farrar, G.J., Kremer, H., Lanting, C.P., Damme, M., and Pennings, R.J.E.

Abstract

Item does not contain fulltext, Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Recently, variants in the arylsulfatase G (ARSG) gene have been reported to underlie USH type IV. This distinct type of USH is characterized by late-onset RP with predominantly pericentral and macular changes, and late onset SNHL without vestibular dysfunction. In this study, we describe the USH type IV phenotype in three unrelated subjects. We identified three novel pathogenic variants, two novel likely pathogenic variants, and one previously described pathogenic variant in ARSG. Functional experiments indicated a loss of sulfatase activity of the mutant proteins. Our findings confirm that ARSG variants cause the newly defined USH type IV and support the proposed extension of the phenotypic USH classification.

Published
2022

8. Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A

Author

Reurink, J.A., Oostrik, J., Aben, M.J., Ramos, Mariana Guimarães, Berkel, Emma van, Ołdak, M., WIjk, E. van, Kremer, H., Roosing, S., Cremers, F.P.M., Reurink, J.A., Oostrik, J., Aben, M.J., Ramos, Mariana Guimarães, Berkel, Emma van, Ołdak, M., WIjk, E. van, Kremer, H., Roosing, S., and Cremers, F.P.M.

Abstract

Contains fulltext : 285909.pdf (Publisher’s version ) (Open Access)

Published
2022

9. Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

Author

Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, C.H.Z., Heaton, Robert A., Reurink, J.A., Hoyng, C.B., Roosing, S., Webster, A.R., Arno, G., Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, C.H.Z., Heaton, Robert A., Reurink, J.A., Hoyng, C.B., Roosing, S., Webster, A.R., and Arno, G.

Abstract

Contains fulltext : 283863.pdf (Publisher’s version ) (Open Access)

Published
2022

10. Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

Author

Reurink, J.A., Dockery, A., Oziębło, D., Farrar, G.J., Ołdak, M., Brink, J.B. ten, Bergen, A.A., Rinne, T.K., Yntema, H.G., Pennings, R.J.E., Born, L.I. van den, Aben, M.J., Oostrik, J., Venselaar, H., Plomp, A.S., Khan, M.I., WIjk, E. van, Cremers, F.P.M., Roosing, S., Kremer, H., Reurink, J.A., Dockery, A., Oziębło, D., Farrar, G.J., Ołdak, M., Brink, J.B. ten, Bergen, A.A., Rinne, T.K., Yntema, H.G., Pennings, R.J.E., Born, L.I. van den, Aben, M.J., Oostrik, J., Venselaar, H., Plomp, A.S., Khan, M.I., WIjk, E. van, Cremers, F.P.M., Roosing, S., and Kremer, H.

Abstract

Contains fulltext : 235033.pdf (Publisher’s version ) (Open Access)

Published
2021

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