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dc.contributor.author
Khan, Mubeen
dc.contributor.author
Cornelis, Stéphanie S.
dc.contributor.author
Del Pozo Valero, Marta
dc.contributor.author
Whelan, Laura
dc.contributor.author
Runhart, Esmee H.
dc.contributor.author
Mishra, Ketan
dc.contributor.author
Bults, Femke
dc.contributor.author
AlSwaiti, Yahya
dc.contributor.author
AlTalbishi, Alaa
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De Baere, Elfride
dc.contributor.author
Banfi, Sandro
dc.contributor.author
Banin, Eyal
dc.contributor.author
Bauwens, Miriam
dc.contributor.author
Ben Yosef, Tamar
dc.contributor.author
Boon, Camiel J. F.
dc.contributor.author
van den Born, L. Ingeborgh
dc.contributor.author
Defoort, Sabine
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Devos, Aurore
dc.contributor.author
Dockery, Adrian
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Dudakova, Lubica
dc.contributor.author
Fakin, Ana
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Farrar, G. Jane
dc.contributor.author
Ferraz Sallum, Juliana Maria
dc.contributor.author
Fujinami, Kaoru
dc.contributor.author
Gilissen, Christian
dc.contributor.author
Glavac, Damjan
dc.contributor.author
Gorin, Michael B.
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Greenberg, Jacquie
dc.contributor.author
Hayashi, Takaaki
dc.contributor.author
Hettinga, Ymkje M.
dc.contributor.author
Hoischen, Alexander
dc.contributor.author
Hoyng, Carel B.
dc.contributor.author
Hufendiek, Karsten
dc.contributor.author
Jägle, Herbert
dc.contributor.author
Kamakari, Smaragda
dc.contributor.author
Karali, Marianthi
dc.contributor.author
Kellner, Ulrich
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Klaver, Caroline C. W.
dc.contributor.author
Kousal, Bohdan
dc.contributor.author
Lamey, Tina M.
dc.contributor.author
MacDonald, Ian M.
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Matynia, Anna
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McLaren, Terri L.
dc.contributor.author
Mena, Marcela D.
dc.contributor.author
Meunier, Isabelle
dc.contributor.author
Miller, Rianne
dc.contributor.author
Newman, Hadas
dc.contributor.author
Ntozini, Buhle
dc.contributor.author
Oldak, Monika
dc.contributor.author
Pieterse, Marc
dc.contributor.author
Podhajcer, Osvaldo Luis
dc.contributor.author
Puech, Bernard
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Ramesar, Raj
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Rüther, Klaus
dc.contributor.author
Salameh, Manar
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Salles, Mariana Vallim
dc.contributor.author
Sharon, Dror
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Simonelli, Francesca
dc.contributor.author
Spital, Georg
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Steehouwer, Marloes
dc.contributor.author
Szaflik, Jacek P.
dc.contributor.author
Thompson, Jennifer A.
dc.contributor.author
Thuillier, Caroline
dc.contributor.author
Tracewska, Anna M.
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van Zweeden, Martine
dc.contributor.author
Vincent, Andrea L.
dc.contributor.author
Zanlonghi, Xavier
dc.contributor.author
Liskova, Petra
dc.contributor.author
Stöhr, Heidi
dc.contributor.author
De Roach, John N.
dc.contributor.author
Ayuso, Carmen
dc.contributor.author
Roberts, Lisa
dc.contributor.author
Weber, Bernhard H. F.
dc.contributor.author
Dhaenens, Claire Marie
dc.contributor.author
Cremers, Frans P. M.
dc.date.available
2021-09-17T14:43:27Z
dc.date.issued
2020-07
dc.identifier.citation
Khan, Mubeen; Cornelis, Stéphanie S.; Del Pozo Valero, Marta; Whelan, Laura; Runhart, Esmee H.; et al.; Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics; Lippincott Williams; Genetics In Medicine; 22; 7; 7-2020; 1235-1246
dc.identifier.issn
1098-3600
dc.identifier.uri
http://hdl.handle.net/11336/140677
dc.description.abstract
Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-like probands. Methods: Sequencing of the complete 128-kb ABCA4 gene was performed using single-molecule molecular inversion probes (smMIPs), based on a semiautomated and cost-effective method. Structural variants (SVs) were identified using relative read coverage analyses and putative splice defects were studied using in vitro assays. Results: In 448 biallelic probands 14 known and 13 novel deep-intronic variants were found, resulting in pseudoexon (PE) insertions or exon elongations in 105 alleles. Intriguingly, intron 13 variants c.1938-621G>A and c.1938-514G>A resulted in dual PE insertions consisting of the same upstream, but different downstream PEs. The intron 44 variant c.6148-84A>T resulted in two PE insertions and flanking exon deletions. Eleven distinct large deletions were found, two of which contained small inverted segments. Uniparental isodisomy of chromosome 1 was identified in one proband. Conclusion: Deep sequencing of ABCA4 and midigene-based splice assays allowed the identification of SVs and causal deep-intronic variants in 25% of biallelic STGD1 cases, which represents a model study that can be applied to other inherited diseases.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Lippincott Williams
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
ABCA4
dc.subject
DEEP-INTRONIC VARIANTS
dc.subject
SMMIPS
dc.subject
STARGARDT DISEASE
dc.subject
STRUCTURAL VARIANTS
dc.subject.classification
Oftalmología
dc.subject.classification
Medicina Clínica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2021-08-20T19:38:34Z
dc.identifier.eissn
1530-0366
dc.journal.volume
22
dc.journal.number
7
dc.journal.pagination
1235-1246
dc.journal.pais
Estados Unidos
dc.description.fil
Fil: Khan, Mubeen. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Cornelis, Stéphanie S.. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Del Pozo Valero, Marta. Hospital Universitario Fundación Jiménez Díaz; España. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Whelan, Laura. Trinity College; Estados Unidos
dc.description.fil
Fil: Runhart, Esmee H.. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Mishra, Ketan. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Bults, Femke. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: AlSwaiti, Yahya. St John of Jerusalem Eye Hospital Group; Palestina (ANP)
dc.description.fil
Fil: AlTalbishi, Alaa. St John of Jerusalem Eye Hospital Group; Palestina (ANP)
dc.description.fil
Fil: De Baere, Elfride. University of Ghent; Bélgica
dc.description.fil
Fil: Banfi, Sandro. Seconda Universita Degli Studi Di Napoli; Italia
dc.description.fil
Fil: Banin, Eyal. The Hebrew University of Jerusalem; Israel
dc.description.fil
Fil: Bauwens, Miriam. University of Ghent; Bélgica
dc.description.fil
Fil: Ben Yosef, Tamar. The Ruth And Bruce Rappaport Faculty Of Medicine; Israel
dc.description.fil
Fil: Boon, Camiel J. F.. Leiden University. Leiden University Medical Center; Países Bajos
dc.description.fil
Fil: van den Born, L. Ingeborgh. Rotterdam Ophthalmic Institute; Países Bajos
dc.description.fil
Fil: Defoort, Sabine. Universite Lille; Francia
dc.description.fil
Fil: Devos, Aurore. Universite Lille; Francia
dc.description.fil
Fil: Dockery, Adrian. Trinity College; Estados Unidos
dc.description.fil
Fil: Dudakova, Lubica. Charles University and General University Hospital; República Checa
dc.description.fil
Fil: Fakin, Ana. Charles University and General University Hospital; República Checa
dc.description.fil
Fil: Farrar, G. Jane. Trinity College; Estados Unidos
dc.description.fil
Fil: Ferraz Sallum, Juliana Maria. Universidade Federal de Sao Paulo; Brasil
dc.description.fil
Fil: Fujinami, Kaoru. UCL Institute of Ophthalmology; Reino Unido
dc.description.fil
Fil: Gilissen, Christian. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Glavac, Damjan. University of Ljubljana; Eslovenia
dc.description.fil
Fil: Gorin, Michael B.. University of California at Los Angeles. School of Medicine; Estados Unidos
dc.description.fil
Fil: Greenberg, Jacquie. University of Cape Town; Sudáfrica
dc.description.fil
Fil: Hayashi, Takaaki. The Jikei University School of Medicine; Japón
dc.description.fil
Fil: Hettinga, Ymkje M.. Bartiméus Diagnostic Center for Complex Visual Disorders; Países Bajos
dc.description.fil
Fil: Hoischen, Alexander. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Hoyng, Carel B.. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Hufendiek, Karsten. University Eye Hospital Hannover Medical School; Alemania
dc.description.fil
Fil: Jägle, Herbert. University Regensburg; Alemania
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Fil: Kamakari, Smaragda. OMMA Ophthalmological Institute of Athens; Grecia
dc.description.fil
Fil: Karali, Marianthi. Seconda Universita Degli Studi Di Napoli; Italia
dc.description.fil
Fil: Kellner, Ulrich. No especifíca;
dc.description.fil
Fil: Klaver, Caroline C. W.. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Kousal, Bohdan. Charles University and General University Hospital; República Checa
dc.description.fil
Fil: Lamey, Tina M.. University of Western Australia; Australia
dc.description.fil
Fil: MacDonald, Ian M.. University of Alberta; Canadá
dc.description.fil
Fil: Matynia, Anna. University of California at Los Angeles. School of Medicine; Estados Unidos
dc.description.fil
Fil: McLaren, Terri L.. University of Western Australia; Australia
dc.description.fil
Fil: Mena, Marcela D.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina
dc.description.fil
Fil: Meunier, Isabelle. Université Montpellier II; Francia
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Fil: Miller, Rianne. Radboud University Nijmegen Medical Centre; Países Bajos
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Fil: Newman, Hadas. Universitat Tel Aviv; Israel
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Fil: Ntozini, Buhle. University of Cape Town; Sudáfrica
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Fil: Oldak, Monika. No especifíca;
dc.description.fil
Fil: Pieterse, Marc. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Podhajcer, Osvaldo Luis. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina
dc.description.fil
Fil: Puech, Bernard. Universite Lille; Francia
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Fil: Ramesar, Raj. University of Cape Town; Sudáfrica
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Fil: Rüther, Klaus. No especifíca;
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Fil: Salameh, Manar. No especifíca;
dc.description.fil
Fil: Salles, Mariana Vallim. Universidade de Sao Paulo; Brasil
dc.description.fil
Fil: Sharon, Dror. The Hebrew University of Jerusalem; Israel
dc.description.fil
Fil: Simonelli, Francesca. Seconda Universita Degli Studi Di Napoli; Italia
dc.description.fil
Fil: Spital, Georg. No especifíca;
dc.description.fil
Fil: Steehouwer, Marloes. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Szaflik, Jacek P.. No especifíca;
dc.description.fil
Fil: Thompson, Jennifer A.. No especifíca;
dc.description.fil
Fil: Thuillier, Caroline. Universite Lille; Francia
dc.description.fil
Fil: Tracewska, Anna M.. No especifíca;
dc.description.fil
Fil: van Zweeden, Martine. Radboud University Nijmegen Medical Centre; Países Bajos
dc.description.fil
Fil: Vincent, Andrea L.. University of Auckland; Nueva Zelanda
dc.description.fil
Fil: Zanlonghi, Xavier. No especifíca;
dc.description.fil
Fil: Liskova, Petra. Charles University and General University Hospital; República Checa
dc.description.fil
Fil: Stöhr, Heidi. Universitat Regensburg; Alemania
dc.description.fil
Fil: De Roach, John N.. University of Western Australia; Australia
dc.description.fil
Fil: Ayuso, Carmen. Hospital Universitario Fundación Jiménez Díaz; España
dc.description.fil
Fil: Roberts, Lisa. University of Cape Town; Sudáfrica
dc.description.fil
Fil: Weber, Bernhard H. F.. Universitat Regensburg; Alemania
dc.description.fil
Fil: Dhaenens, Claire Marie. Universite Lille; Francia
dc.description.fil
Fil: Cremers, Frans P. M.. Radboud University Nijmegen Medical Centre; Países Bajos
dc.journal.title
Genetics In Medicine
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://www.nature.com/articles/s41436-020-0787-4
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1038/s41436-020-0787-4
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