{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T08:33:59Z","timestamp":1768898039118,"version":"3.49.0"},"reference-count":39,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,8,30]],"date-time":"2018-08-30T00:00:00Z","timestamp":1535587200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["30371493"],"award-info":[{"award-number":["30371493"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31701087"],"award-info":[{"award-number":["31701087"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81672887"],"award-info":[{"award-number":["81672887"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Retinal dystrophy is an inherited, heterogeneous, chronic and progressive disorder of visual functions. The mutations of patients with autosomal recessive retinal retinopathy cone\u2010and\u2010rod dysfunction and macular dystrophy have not been well described in the Chinese population. In this study, a three\u2010generation Chinese retinal dystrophy family was recruited. Ophthalmic examinations were performed. Targeted next generation sequencing (TGS) was used to identify causative genes, and Sanger sequencing was conducted to verify candidate mutations and co\u2010segregation. Reverse transcription (RT)\u2010PCR was applied to investigate the spatial and temporal expression patterns of <jats:italic>cdhr1<\/jats:italic> gene in mouse. A novel, homozygous, deleterious and nonsense variant (c.T1641A; p.Y547*) in the <jats:italic>CDHR1<\/jats:italic> gene was identified in the family with autosomal recessive retinal dystrophy, which was co\u2010segregated with the clinical phenotypes in this family. RT\u2010PCR analysis revealed that <jats:italic>cdhr1<\/jats:italic> is ubiquitously expressed in eye, particularly very high expression in retina; high expression in lens, sclera, and cornea; and high expression in brain. In conclusion, our study is the first to indicate\u00a0that the novel homozygous variant c.T1641A (p.Y547*) in the <jats:italic>CHDR1<\/jats:italic> gene might be the disease\u2010causing mutation for retinal dystrophy in our patient, extending its mutation spectrums. These findings further the understanding of the molecular pathogenesis of this disease and provide new insights for diagnosis as well as new implications for genetic counselling.<\/jats:p>","DOI":"10.1111\/jcmm.13841","type":"journal-article","created":{"date-parts":[[2018,8,30]],"date-time":"2018-08-30T16:05:48Z","timestamp":1535645148000},"page":"5662-5669","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["A novel, homozygous nonsense variant of the <i>CDHR1<\/i> gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS\u2010based genetic diagnosis"],"prefix":"10.1111","volume":"22","author":[{"given":"Jiewen","family":"Fu","sequence":"first","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology The Research Center for Preclinical Medicine Southwest Medical University Luzhou Sichuan China"},{"name":"Institute of Medical Technology, Xiangtan Medicine and Health Vocational College 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