{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:54:25Z","timestamp":1790780065803,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:00:00Z","timestamp":1790726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:00:00Z","timestamp":1790726400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","award":["1778\/20"],"award-info":[{"award-number":["1778\/20"]}],"id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Inherited retinal diseases (IRDs) are genetically heterogeneous and often remain unsolved despite advanced sequencing. This study investigated two siblings from a consanguineous Arab\u2010Christian family presenting with a syndromic IRD. Exome sequencing revealed a homozygous frameshift variant (c.1535_1538del:(p.Lys512Argfs*8) in the\n                    <jats:italic>KHDC4<\/jats:italic>\n                    gene, which segregated with disease in an autosomal recessive pattern. In\u00a0vitro overexpression of the mutant protein showed aberrant sub\u2010cellular localization, and an in\u00a0vivo zebrafish knockout model exhibited mild retinal dysfunction. These findings establish\n                    <jats:italic>KHDC4<\/jats:italic>\n                    as a novel candidate gene for syndromic IRDs in humans, expanding the genetic landscape of the IRDs.\n                  <\/jats:p>","DOI":"10.1111\/cge.70256","type":"journal-article","created":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:55:37Z","timestamp":1790776537000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Homozygous Frameshift Variant in\n                    <scp>\n                      <i>KHDC4<\/i>\n                    <\/scp>\n                    Is Associated With a Syndromic Inherited Retinal Disease in Humans"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9960-9622","authenticated-orcid":false,"given":"Asodu Sandeep","family":"Sarma","sequence":"first","affiliation":[{"name":"Division of Ophthalmology, Hadassah Medical Centre, Faculty of Medicine The Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-5696-2401","authenticated-orcid":false,"given":"Neta","family":"Barnoy","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Hadassah Medical Centre, Faculty of Medicine The Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4556-4638","authenticated-orcid":false,"given":"Prakadeeswari","family":"Gopalakrishnan","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Hadassah Medical Centre, Faculty of Medicine The Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keren","family":"Dichter","sequence":"additional","affiliation":[{"name":"Department of Medical Neurobiology, IMRIC The Hebrew University\u2010Hadassah Medical School  Jerusalem 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