{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T05:18:27Z","timestamp":1780550307203,"version":"3.54.1"},"reference-count":32,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2016,8,26]]},"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Usher syndrome is a genetically heterogeneous disorder featured by combined visual impairment and hearing loss. Despite a dozen of genes involved in Usher syndrome having been identified, the genetic basis remains unknown in 20\u201330% of patients. In this study, we aimed to identify the novel disease-causing gene of a distinct subtype of Usher syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Ophthalmic examinations and hearing tests were performed on patients with Usher syndrome in two consanguineous families. Target capture sequencing was initially performed to screen causative mutations in known retinal disease-causing loci. Whole exome sequencing (WES) and whole genome sequencing (WGS) were applied for identifying novel disease-causing genes. RT-PCR and Sanger sequencing were performed to evaluate the splicing-altering effect of identified <jats:italic>CEP78<\/jats:italic> variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Patients from the two independent families show a mild Usher syndrome phenotype featured by juvenile or adult-onset cone\u2013rod dystrophy and sensorineural hearing loss. WES and WGS identified two homozygous rare variants that affect mRNA splicing of a ciliary gene <jats:italic>CEP78<\/jats:italic>. RT-PCR confirmed that the two variants indeed lead to abnormal splicing, resulting in premature stop of protein translation due to frameshift.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our results provide evidence that <jats:italic>CEP78<\/jats:italic> is a novel disease-causing gene for Usher syndrome, demonstrating an additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2016-104166","type":"journal-article","created":{"date-parts":[[2016,9,14]],"date-time":"2016-09-14T22:53:40Z","timestamp":1473893620000},"page":"190-195","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":50,"title":["<i>CEP78<\/i> is mutated in a distinct type of Usher syndrome"],"prefix":"10.1136","volume":"54","author":[{"given":"Qing","family":"Fu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China"},{"name":"Department of Ophthalmology, Huashan Hospital, Fudan University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingchu","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA"},{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University and State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, Jiangsu, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xunlun","family":"Sheng","sequence":"additional","affiliation":[{"name":"Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First affiliated hospital of Northwest University for Nationalities), Yinchuan, Ningxia, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhisheng","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yani","family":"Liu","sequence":"additional","affiliation":[{"name":"Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First affiliated hospital of Northwest University for Nationalities), Yinchuan, Ningxia, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huajin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zixi","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiping","family":"Li","sequence":"additional","affiliation":[{"name":"Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region (First affiliated hospital of Northwest University for Nationalities), Yinchuan, Ningxia, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lizhu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Peking Union Medical College 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