University of Aberdeen logo

AURA - Aberdeen University Research Archive

 

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Simple item page
dc.contributor.authorSangermano, Riccardo
dc.contributor.authorGaranto, Alejandro
dc.contributor.authorKhan, Mubeen
dc.contributor.authorRunhart, Esmee H.
dc.contributor.authorBauwens, Miriam
dc.contributor.authorBax, Nathalie M.
dc.contributor.authorvan den Born, L. Ingeborgh
dc.contributor.authorKhan, Muhammad Imran
dc.contributor.authorCornelis, Stéphanie S.
dc.contributor.authorVerheij, Joke B.G.M.
dc.contributor.authorPott, Jan Willem R.
dc.contributor.authorThiadens, Alberta A.H.J.
dc.contributor.authorKlaver, Caroline C.W.
dc.contributor.authorPuech, Bernard
dc.contributor.authorMeunier, Isabelle
dc.contributor.authorNaessens, Sarah
dc.contributor.authorArno, Gavin
dc.contributor.authorFakin, Ana
dc.contributor.authorCarss, Keren J.
dc.contributor.authorRaymond, F. Lucy
dc.contributor.authorWebster, Andrew R.
dc.contributor.authorDhaenens, Claire Marie
dc.contributor.authorStöhr, Heidi
dc.contributor.authorGrassmann, Felix
dc.contributor.authorWeber, Bernhard H.F.
dc.contributor.authorHoyng, Carel B.
dc.contributor.authorDe Baere, Elfride
dc.contributor.authorAlbert, Silvia
dc.contributor.authorCollin, Rob W.J.
dc.contributor.authorCremers, Frans P.M.
dc.contributor.institutionUniversity of Aberdeen.Medical Sciencesen
dc.date.accessioned2022-02-24T11:22:01Z
dc.date.available2022-02-24T11:22:01Z
dc.date.issued2019-08
dc.descriptionWe thank Ellen Blokland, Lonneke Duijkers, Duaa Elmelik, Anita Hoogendoorn, Marlie Jacobs-Camps, Saskia van der Velde-Visser, and Marijke Zonneveld-Vrieling for technical assistance. We thank Sabine Defoort, Hélène Dollfus, Isabelle Drumare, Christian P. Hamel, Karsten Hufendiek, Cord Huchzermeyer, Herbert Jägle, Ulrich Kellner, Philipp Rating, Klaus Rüther, Eric Souied, Georg Spital, and Xavier Zanlonghi for their cooperation and ascertaining STGD1 cases. This work was supported by the FP7-PEOPLE-2012-ITN programme EyeTN, agreement 317472 (to F.P.M.C.); the Macula Vision Research Foundation (to F.P.M.C.); the Foundation Fighting Blindness USA, grant no. PPA-0517-0717-RAD (to A.G., C.B.H., F.P.M.C., R.W.J.C., and S.A.); the RP Fighting Blindness UK (RetinaUK), grant no. GR591 (to F.P.M.C. and S.A.); the Rotterdamse Stichting Blindenbelangen, the Stichting Blindenhulp, and the Stichting tot Verbetering van het Lot der Blinden (to F.P.M.C. and S.A.); and by the Landelijke Stichting voor Blinden en Slechtzienden, Macula Degeneratie fonds, and the Stichting Blinden-Penning, which contributed through Uitzicht 2016-12 (to F.P.M.C. and S.A.). This work was also supported by the Algemene Nederlandse Vereniging ter Voorkoming van Blindheid, Stichting Blinden-Penning, Landelijke Stichting voor Blinden en Slechtzienden, Stichting Oogfonds Nederland, Stichting Macula Degeneratie Fonds, and Stichting Retina Nederland Fonds, which contributed through UitZicht 2015-31, together with the Rotterdamse Stichting Blindenbelangen, Stichting Blindenhulp, Stichting tot Verbetering van het Lot der Blinden, Stichting voor Ooglijders, and Stichting Dowilvo (to A.G. and R.W.J.C.); the Stichting Macula Degeneratie Fonds; and the Stichting A.F. Deutman Researchfonds Oogheelkunde (to C.B.H.). This work was also supported by the Algemene Nederlandse Vereniging ter Voorkoming van Blindheid and Landelijke Stichting voor Blinden en Slechtzienden, which contributed through UitZicht 2014-13, together with the Rotterdamse Stichting Blindenbelangen, Stichting Blindenhulp, and the Stichting tot Verbetering van het Lot der Blinden (to F.P.M.C.), the Ghent University Research Fund (BOF15/GOA/011), the Research Foundation Flanders (FVO) G0C6715N, and the Hercules Foundation AUGE/13/023 and JED Foundation to E.D.B. M.B. was PhD fellow of the FWO and recipient of a grant of the funds for Research in Ophthalmology (FRO). E.D.B. is Senior Clinical Investigator of the FWO (1802215N). This work was also supported by the National Institute for Health Research (NIHR) Biomedical Centre at Moorfields and UCL Institute of Ophthalmology (to A.W.), UK NIHR Rare Disease Translational Research Consortium (to G.A. and A.W.), NIHR for the NIHR BioResource (RG65966) (to F.L.R.) by grants from the Federal Ministry of Education and Research (BMBF) (ref. IDs 01GM0851 and 01GM1108B) (to B.H.F.W.). G.A. is supported by a Fight for Sight UK Early Career Investigator Award. The funding organizations had no role in the design or conduct of this research, and provided unrestricted grants. This study made use of data generated by the Genome of the Netherlands Project. Funding for the project was provided by the Netherlands Organization for Scientific Research under award number 184021007, dated 9 July 2009 and made available as a Rainbow Project of the Biobanking and Biomolecular Research Infrastructure Netherlands (BBMRI-NL). Samples where contributed by LifeLines (http://lifelines.nl/lifelines-research/general), the Leiden Longevity Study (http://www.healthy-ageing.nl; http://www.langleven.net), the Netherlands Twin Registry (NTR: http://www.tweelingenregister.org), the Rotterdam studies (http://www.erasmus-epidemiology.nl/rotterdamstudy), and the Genetic Research in Isolated Populations program (http://www.epib.nl/research/geneticepi/research.html#gip). The sequencing was carried out in collaboration with the Beijing Institute for Genomics (BGI).en
dc.description.statusPeer revieweden
dc.format.extent10
dc.format.extent125200
dc.identifier170735277
dc.identifier630da268-2ea4-4bfd-8495-9c6f26dd64f3
dc.identifier85059948953
dc.identifier30643219
dc.identifier.citationSangermano, R, Garanto, A, Khan, M, Runhart, E H, Bauwens, M, Bax, N M, van den Born, L I, Khan, M I, Cornelis, S S, Verheij, J B G M, Pott, J W R, Thiadens, A A H J, Klaver, C C W, Puech, B, Meunier, I, Naessens, S, Arno, G, Fakin, A, Carss, K J, Raymond, F L, Webster, A R, Dhaenens, C M, Stöhr, H, Grassmann, F, Weber, B H F, Hoyng, C B, De Baere, E, Albert, S, Collin, R W J & Cremers, F P M 2019, 'Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides', Genetics in Medicine, vol. 21, no. 8, pp. 1751-1760. https://doi.org/10.1038/s41436-018-0414-9en
dc.identifier.doi10.1038/s41436-018-0414-9
dc.identifier.iss8en
dc.identifier.issn1098-3600
dc.identifier.otherORCID: /0000-0003-1390-7528/work/79064662
dc.identifier.urihttps://hdl.handle.net/2164/18131
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85059948953&partnerID=8YFLogxKen
dc.identifier.vol21en
dc.language.isoeng
dc.relation.ispartofGenetics in Medicineen
dc.subjectABCA4en
dc.subjectantisense oligonucleotideen
dc.subjectdeep-intronic varianten
dc.subjectmissing heritabilityen
dc.subjectStargardt diseaseen
dc.subjectR Medicineen
dc.subjectQH426 Geneticsen
dc.subjectGenetics(clinical)en
dc.subjectNational Institute for Health Research (NIHR)en
dc.subjectSupplementary Dataen
dc.subject.lccRen
dc.subject.lccQH426en
dc.titleDeep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesen
dc.typeJournal articleen

Files

Original bundle

Now showing 1 - 1 of 1
No Thumbnail Available
Name:
Sangermano_etal_GIM_Deep_intronic_ABCA4_Variants_VoR.pdf
Size:
122.27 KB
Format:
Adobe Portable Document Format
Download

Collections

All research

The Sir Duncan Rice Library

University of Aberdeen

Bedford Road

Aberdeen

AB24 3AA


Tel: +44 (0)1224 273330

Email: library@abdn.ac.uk

Share and keep up to date


FacebookTwitterWordpress