{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T09:44:57Z","timestamp":1784627097428,"version":"3.55.0"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004748","name":"Mashhad University of Medical Sciences","doi-asserted-by":"publisher","award":["4011762"],"award-info":[{"award-number":["4011762"]}],"id":[{"id":"10.13039\/501100004748","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Inherited retinal diseases (IRDs) may have significant diagnostic challenges due to their genetic complexity and diverse inheritance patterns. Advanced genotyping tools like exome sequencing (ES) offer promising opportunities for identifying causative variants and improving disease management. This retrospective study was aimed to present prevalent pathogenic and novel variants in patients diagnosed with IRDs using ES. We investigated 154 patients diagnosed clinically with IRDs, of which non\u2010syndromic IRDs were more prevalent than syndromic form (~56% vs. ~44%). Out of 154 unrelated patients, 133 (~86%) were genetically resolved, where retinitis pigmentosa was the most common subtype (26% of all resolved patients). Fifty\u2010three previously known and also 56 novel variants across known IRD genes were identified. Autosomal recessive inheritance predominated in both resolved forms (112\/133, 84.21%), with 46 novel variants. This could be due to high rate of consanguinity in the studied families (114\/133 patients, 85.71%). The two previously reported ancestral founder pathogenic variants in\n                    <jats:italic>TMEM67<\/jats:italic>\n                    (c.725A\u2009&gt;\u2009G) and\n                    <jats:italic>BBS2<\/jats:italic>\n                    (c.471G\u2009&gt;\u2009A) genes, as well as the most common variant in\n                    <jats:italic>AIPL1<\/jats:italic>\n                    gene (c.834G\u2009&gt;\u2009A), were also prevalent in our patients. Interestingly, identical novel compound heterozygote of the\n                    <jats:italic>CEP290<\/jats:italic>\n                    gene (c.3167C\u2009&gt;\u2009A and c.7024C\u2009&gt;\u2009T) were identified in two unrelated cases. This retrospective study was the first attempt in terms of sample size and diversity to add more to our current knowledge of the genetic makeup of IRDs in a population from the East of Iran. Our findings can facilitate genetic counselling and subtype classification of IRDs, especially in challenging cases.\n                  <\/jats:p>","DOI":"10.1111\/cge.14662","type":"journal-article","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T20:00:36Z","timestamp":1736193636000},"page":"300-310","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (\n                    <scp>IRDs<\/scp>\n                    ) in a Cohort of Eastern Iranian Patients"],"prefix":"10.1111","volume":"107","author":[{"given":"Reza Mousavi","family":"Ardehaie","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Molecular Medicine, Faculty of Medicine Mashhad University of Medical Sciences  Mashhad Iran"},{"name":"Medical Genetic Research Centre Mashhad University of Medical Sciences  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atieh","family":"Eslahi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Medicine, Faculty of Medicine Mashhad University of Medical Sciences  Mashhad Iran"},{"name":"Medical Genetic Research Centre Mashhad University of Medical Sciences  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoome","family":"Alerasool","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Medicine, Faculty of Medicine Mashhad University of Medical Sciences  Mashhad Iran"},{"name":"Medical Genetic Research Centre Mashhad University of Medical Sciences  Mashhad Iran"},{"name":"Genetic Foundation of Khorasan Razavi  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elham Khani","family":"Rad","sequence":"additional","affiliation":[{"name":"Genetic Foundation of Khorasan Razavi  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasser","family":"Shoeibi","sequence":"additional","affiliation":[{"name":"Eye Research Centre Mashhad University of Medical Sciences  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Reza","family":"Sedaghat","sequence":"additional","affiliation":[{"name":"Khatam\u2010al\u2010Anbia Eye Hospital Mashhad University of Medical Sciences  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir","family":"Avan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Medicine, Faculty of Medicine Mashhad University of Medical Sciences  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alireza","family":"Pasdar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Medicine, Faculty of Medicine Mashhad University of Medical Sciences  Mashhad Iran"},{"name":"Medical Genetic Research Centre Mashhad University of Medical Sciences  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Mojarrad","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Medicine, Faculty of Medicine Mashhad University of Medical Sciences  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-34380-0"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000358403"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-98677-3"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/09286586.2018.1451547"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2016-310532"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232113467"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-021-00874-6"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2021.101029"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22115684"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/2515841420954592"},{"key":"e_1_2_10_12_1","article-title":"Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population\u2010Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance","volume":"11","author":"Ellingford J. 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Human Genetics and Genomics","volume":"4","author":"Sanjurjo\u2010Soriano C.","year":"2023","journal-title":"Advances"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1159\/000477560"},{"key":"e_1_2_10_36_1","first-page":"1","article-title":"Characterizing Homozygous Variants in Bardet\u2010Biedl Syndrome\u2010Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c. 471G> A","volume":"62","author":"Feizabadi M. 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