{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hitti-Malin RJ"],"funding":["Stichting tot Verbetering van het Lot der Blinden","HRCI HRB Joint Funding Scheme","Pro Retina Deutschland","Stichting voor Ooglijders","Stichting Oogfonds Nederland","Stichting Blindenhulp"],"pagination":["367"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10967834"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(3)"],"pubmed_abstract":["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 <i>ABCA4</i> (37.2%), <i>PRPH2</i> (6.7%), <i>CDHR1</i> (6.1%), <i>PROM1</i> (4.3%) and <i>RP1L1</i> (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"],"journal":["Biomolecules"],"pubmed_title":["Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes."],"pmcid":["PMC10967834"],"funding_grant_id":["UZ 2020-17","2020-007"],"pubmed_authors":["Tracewska AM","Cremers FPM","Glavac D","Ayuso C","Dudakova L","Gorin MB","Rivolta C","Farrar GJ","Li CHZ","Sajovic J","Luppi E","Kayserili H","Astuti G","Boonen EGM","Sharon D","Stohr H","Sartor G","Fujinami K","Roosing S","Lamey TM","De Baere E","Corradi Z","Banfi S","Vajter M","Szaflik JP","Kamakari S","De Roach JN","Hitti-Malin RJ","Zernant J","Downes SM","McLaren TL","Karali M","van den Born LI","Chen FK","Valeina S","Panneman DM","Kampjarvi K","Ben-Yosef T","Hoyng CB","Oldak M","Banin E","Taurina G","Sallum JMF","Dhaenens CM","Allikmets R","Bolz HJ","Weber BHF","AlTalbishi A","Vincent AL","Ramesar R","Thompson JA","Bauwens M","Liskova P","Klaver CCW","Fakin A","Roberts L","Matynia A","Lee W","Podhajcer OL","Inglehearn CF"],"additional_accession":[]},"is_claimable":false,"name":"Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.","description":"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 <i>ABCA4</i> (37.2%), <i>PRPH2</i> (6.7%), <i>CDHR1</i> (6.1%), <i>PROM1</i> (4.3%) and <i>RP1L1</i> (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","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Mar","modification":"2025-04-04T23:53:02.624Z","creation":"2025-04-04T23:53:02.624Z"},"accession":"S-EPMC10967834","cross_references":{"pubmed":["38540785"],"doi":["10.3390/biom14030367"]}}