{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:21:28Z","timestamp":1787311288402,"version":"build-2736575974"},"reference-count":26,"publisher":"BMJ","issue":"11","license":[{"start":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T00:00:00Z","timestamp":1753920000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["EY002520"],"award-info":[{"award-number":["EY002520"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["EY018571"],"award-info":[{"award-number":["EY018571"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["EY022356"],"award-info":[{"award-number":["EY022356"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["EY030499"],"award-info":[{"award-number":["EY030499"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["P30EY010572"],"award-info":[{"award-number":["P30EY010572"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Knights Templar Eye Foundation Grant","award":["2024 #9"],"award-info":[{"award-number":["2024 #9"]}]},{"name":"Daljit S. and Elaine Sarkaria Charitable Foundation"},{"DOI":"10.13039\/501100000262","name":"Foundation Fighting Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000262","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Unrestricted Grant from Research to Prevent Blindness"},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Vision Health Research Network"},{"name":"NIH","award":["P30 EY034070"],"award-info":[{"award-number":["P30 EY034070"]}]},{"name":"NIH","award":["S10OD023469"],"award-info":[{"award-number":["S10OD023469"]}]},{"name":"Intramural Research Program of the National Eye Institute","award":["EY000564"],"award-info":[{"award-number":["EY000564"]}]},{"name":"the Retinal Research Foundation"},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,6,24]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Inherited retinal diseases (IRDs) are a group of disorders often resulting in progressive vision loss, ultimately leading to blindness. A significant portion of their genetic causes remain unresolved, partly due to undiscovered disease-associated genes or variants. This study aimed to identify novel genetic links to IRDs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>All patients underwent comprehensive ophthalmological evaluation, including retinal imaging (fundus autofluorescence and macular optical coherence tomography) and electroretinogram testing. Whole exome sequencing and whole genome sequencing were performed on patients with clinically unsolved IRD, and data were analysed using an in-house pipeline to identify causal variants. Subsequently, Sanger sequencing was performed to confirm identified variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Three unrelated patients from Europe, Middle East and East Asia were identified with unique late-onset retinal degeneration (Stargardt-like phenotype) associated with biallelic loss-of-function (LoF) variants in\n                      <jats:italic>C19orf44<\/jats:italic>\n                      (HGNC: 26141), a gene of unknown function. The homozygous variant NM_032207.2:c.549_550del;p.Ser185Profs*2 was identified in two unrelated patients (European and Middle Eastern). Moreover, an East Asian patient had likely compound heterozygous LoF variants (NM_032207.2:c.1168C&gt;T;p.Gln390*\/c.976_977del;p.Leu326Lysfs*15).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our findings establish\n                      <jats:italic>C19orf44<\/jats:italic>\n                      as a novel disease-causing gene for IRD with Stargardt-like phenotype, expanding the genetic landscape of retinal degeneration.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2025-110681","type":"journal-article","created":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T17:20:24Z","timestamp":1753982424000},"page":"693-699","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic loss-of-function variants in\n                    <i>C19orf44<\/i>\n                    lead to retinal degeneration"],"prefix":"10.1136","volume":"62","clinical-trial-number":[{"clinical-trial-number":"nct02077894","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5269-8971","authenticated-orcid":false,"given":"Hafiz Muhammad Jafar","family":"Hussain","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wang","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Center for Translational Vision Research, Irvine School of 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