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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
RJ. Hitti-Malin, DM. Panneman, Z. Corradi, EGM. Boonen, G. Astuti, CM. Dhaenens, H. Stöhr, BHF. Weber, D. Sharon, E. Banin, M. Karali, S. Banfi, T. Ben-Yosef, D. Glavač, GJ. Farrar, C. Ayuso, P. Liskova, L. Dudakova, M. Vajter, M. Ołdak, JP....
Jazyk angličtina Země Švýcarsko
Typ dokumentu časopisecké články
Grantová podpora
2020-007
HRCI HRB Joint Funding Scheme
UZ 2020-17
Stichting Oogfonds Nederland
UZ 2020-17
Pro Retina Deutschland
UZ 2020-17
Stichting tot Verbetering van het Lot der Blinden
UZ 2020-17
Stichting voor Ooglijders
UZ 2020-17
Stichting Blindenhulp
NLK
Directory of Open Access Journals
od 2011
PubMed Central
od 2011
Europe PubMed Central
od 2011
ProQuest Central
od 2011-01-01
Open Access Digital Library
od 2011-01-01
Open Access Digital Library
od 2011-01-01
Health & Medicine (ProQuest)
od 2011-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2011
PubMed
38540785
DOI
10.3390/biom14030367
Knihovny.cz E-zdroje
- MeSH
- ABC transportéry genetika MeSH
- fenotyp MeSH
- kadherinové proteiny MeSH
- lidé MeSH
- makulární degenerace * genetika MeSH
- mutace MeSH
- oční proteiny MeSH
- penetrance MeSH
- proteiny nervové tkáně genetika MeSH
- retina MeSH
- rodokmen MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were ABCA4 (37.2%), PRPH2 (6.7%), CDHR1 (6.1%), PROM1 (4.3%) and RP1L1 (3.1%). Interestingly, variants with incomplete penetrance were revealed in almost one-third of patients considered solved (28.1%), and therefore, a proportion of patients may not be explained solely by the variants reported. This includes eight previously reported variants with incomplete penetrance in addition to CDHR1:c.783G>A and CNGB3:c.1208G>A. Notably, segregation analysis was not routinely performed for variant phasing-a limitation, which may also impact the overall diagnostic yield. The relatively high proportion of probands without any putative causal variant (60.2%) highlights the need to explore variants with incomplete penetrance, the potential modifiers of disease and the genetic overlap between iMDs and age-related macular degeneration. Our results provide valuable insights into the genetic landscape of iMDs and warrant future exploration to determine the involvement of other maculopathy genes.
Blueprint Genetics 02150 Espoo Finland
Center for Medical Genetics Ghent University Hospital 9000 Ghent Belgium
Children's Clinical University Hospital LV 1004 Riga Latvia
College of Optometry University of Houston Houston TX 77004 USA
Datana Solutions 54 530 Wroclaw Poland
Department of Biomolecular Medicine Ghent University 9000 Ghent Belgium
Department of Histology and Embryology Medical University of Warsaw 02 004 Warsaw Poland
Department of Human Genetics Radboud University Medical Center 6500 HB Nijmegen The Netherlands
Department of Medical and Surgical Sciences University of Bologna 40127 Bologna Italy
Department of Medical Genetics Koc University School of Medicine 34450 Istanbul Turkey
Department of Ophthalmology Columbia University New York NY 10027 USA
Department of Ophthalmology Radboud University Medical Center 6525 GA Nijmegen The Netherlands
Department of Ophthalmology Riga Stradins University LV 1007 Riga Latvia
Department of Ophthalmology The Jikei University School of Medicine Tokyo 105 8461 Japan
Department of Pathology and Cell Biology Columbia University New York NY 10027 USA
Department of Pharmacy and Biotechnology University of Bologna 40127 Bologna Italy
Department of Precision Medicine University of Campania 'Luigi Vanvitelli' 80138 Naples Italy
Eye Department Greenlane Clinical Centre Auckland District Health Board Auckland 1142 New Zealand
Eye Hospital University Medical Centre Ljubljana 1000 Ljubljana Slovenia
Faculty of Medicine University of Ljubljana 1000 Ljubljana Slovenia
Institute of Clinical Human Genetics University Hospital Regensburg 93053 Regensburg Germany
Institute of Human Genetics University Hospital of Cologne 50937 Cologne Germany
Institute of Human Genetics University of Regensburg 93053 Regensburg Germany
Institute of Molecular and Clinical Ophthalmology Basel 4031 Basel Switzerland
Instituto de Genética Ocular São Paulo 04552 050 SP Brazil
Jules Stein Eye Institute Los Angeles CA 90095 USA
Ophthalmic Genetics Unit OMMA Ophthalmological Institute of Athens 115 25 Athens Greece
Oxford Eye Hospital Oxford University NHS Foundation Trust Oxford OX3 9DU UK
St John of Jerusalem Eye Hospital Group East Jerusalem 91198 Palestine
Telethon Institute of Genetics and Medicine 80078 Pozzuoli Italy
The Rotterdam Eye Hospital 3011 BH Rotterdam The Netherlands
Unit of Medical Genetics IRCCS Azienda Ospedaliero Universitaria di Bologna 40138 Bologna Italy
Univ Lille Inserm CHU Lille U1172 LilNCog Lille Neuroscience and Cognition F 59000 Lille France
Citace poskytuje Crossref.org
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