{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:05:17Z","timestamp":1790168717313,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T00:00:00Z","timestamp":1788998400000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      This study aimed to characterize the clinical and genetic features of a Chinese family with cone\u2010rod dystrophy in which compound heterozygous\n                      <jats:italic>PCDH15<\/jats:italic>\n                      variants were identified.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A Chinese pedigree with autosomal recessive cone\u2010rod dystrophy was investigated. A comprehensive ophthalmic assessment was performed in the proband, a 42\u2010year\u2010old woman, together with genetic evaluation of her family members. Candidate variants were identified using whole\u2010exome sequencing and subsequently assessed by Sanger sequencing and family segregation analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Ophthalmoscopic examination revealed pigmentary changes and atrophic lesions affecting the posterior pole and peripapillary area bilaterally. Optical coherence tomography (OCT) demonstrated bilateral outer retinal layer atrophy with disruption of the ellipsoid zone at the posterior pole. Multifocal electroretinography (mfERG) revealed attenuated central responses, while full\u2010field electroretinography (ffERG) documented a more pronounced reduction in cone\u2010mediated (photopic) responses. Two novel compound heterozygous variants in\n                      <jats:italic>PCDH15<\/jats:italic>\n                      , namely c.4903_4906del (p.Glu1635Lysfs*4) and c.3470C&gt;A (p.Ala1157Glu), were identified in this autosomal recessive cone\u2010rod dystrophy pedigree. Family co\u2010segregation analysis provided supportive evidence for their potential association with the disease phenotype. Cross\u2010species analysis revealed high evolutionary conservation of the PCDH15 protein. Three\u2010dimensional structural modeling predicted potential alterations in protein structure.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      To our knowledge, this is the first report describing an association between compound heterozygous\n                      <jats:italic>PCDH15<\/jats:italic>\n                      variants and cone\u2010rod dystrophy, thereby providing preliminary evidence that may broaden the mutational spectrum associated with this gene.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70298","type":"journal-article","created":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T06:12:17Z","timestamp":1789107137000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Compound Heterozygous\n                    <scp>\n                      <i>PCDH15<\/i>\n                    <\/scp>\n                    Variants Associated With Cone\u2010Rod Dystrophy in a Chinese Pedigree"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3811-7998","authenticated-orcid":false,"given":"Lei","family":"Zhang","sequence":"first","affiliation":[{"name":"Shaanxi Eye Hospital Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital of Northwest University  Xi'an China"},{"name":"Xi'an Key Laboratory of Digital Medical Technology of Ophthalmologic Imaging  Xi'an China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianfeng","family":"Wang","sequence":"additional","affiliation":[{"name":"Medical College of Optometry and Ophthalmology Shandong University of Traditional Chinese Medicine  Jinan Shandong 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