{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T10:48:48Z","timestamp":1780397328372,"version":"3.54.1"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:00:00Z","timestamp":1737676800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:00:00Z","timestamp":1737676800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"National Natural Science Foundation of Ningxia Hui Autonomous Region","award":["2024AAC03536"],"award-info":[{"award-number":["2024AAC03536"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82260206"],"award-info":[{"award-number":["82260206"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"key research development project of Ningxia Hui Autonomous Region","award":["2024BEG02017"],"award-info":[{"award-number":["2024BEG02017"]}]},{"name":"the training project of the scientific innovation commanding talented person in Ningxia Hui Autonomous Region","award":["2020GKLRLX13"],"award-info":[{"award-number":["2020GKLRLX13"]}]},{"name":"Major achievement transformation project of Ningxia Hui Autonomous Region","award":["2022CJE09011"],"award-info":[{"award-number":["2022CJE09011"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"DOI":"10.1038\/s41598-025-87844-5","type":"journal-article","created":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:17:41Z","timestamp":1737677861000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants"],"prefix":"10.1038","volume":"15","author":[{"given":"Xue","family":"Fan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingzhi","family":"Sha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xunlun","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weining","family":"Rong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,24]]},"reference":[{"key":"87844_CR1","doi-asserted-by":"publisher","first-page":"368rv6","DOI":"10.1126\/scitranslmed.aaf2838","volume":"8","author":"HPN Scholl","year":"2016","unstructured":"Scholl, H. P. N. et al. Emerging therapies for inherited retinal degeneration. Sci. Transl Med. 8, 368rv6 (2016).","journal-title":"Sci. Transl. Med."},{"key":"87844_CR2","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1038\/s41598-018-38007-2","volume":"9","author":"C Jespersgaard","year":"2019","unstructured":"Jespersgaard, C. et al. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. Sci. Rep. 9, 1219 (2019).","journal-title":"Sci. Rep."},{"key":"87844_CR3","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1080\/09286580802105814","volume":"15","author":"P Sen","year":"2008","unstructured":"Sen, P. et al. Prevalence of retinitis pigmentosa in South Indian population aged above 40 years. Ophthalmic Epidemiol. 15, 279\u2013281 (2008).","journal-title":"Ophthalmic Epidemiol."},{"key":"87844_CR4","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1002\/humu.23183","volume":"38","author":"ED Smith","year":"2017","unstructured":"Smith, E. D. et al. Classification of genes: Standardized clinical validity assessment of gene-disease associations aids diagnostic exome analysis and reclassifications. Hum. Mutat. 38, 600\u2013608 (2017).","journal-title":"Hum. Mutat."},{"key":"87844_CR5","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1016\/j.ajhg.2017.04.015","volume":"100","author":"NT Strande","year":"2017","unstructured":"Strande, N. T. et al. Evaluating the clinical validity of gene-disease associations: An evidence-based framework developed by the clinical genome resource. Am. J. Hum. Genet. 100, 895\u2013906 (2017).","journal-title":"Am. J. Hum. Genet."},{"key":"87844_CR6","doi-asserted-by":"publisher","first-page":"e105439","DOI":"10.1371\/journal.pone.0105439","volume":"9","author":"X Chen","year":"2014","unstructured":"Chen, X. et al. Targeted next-generation sequencing reveals novel USH2A mutation associated with diverse disease phenotypes: Implications for clinical and molecular diagnosis. PLoS One. 9, e105439 (2014).","journal-title":"PLoS One"},{"key":"87844_CR7","first-page":"454","volume":"16","author":"X Liu","year":"2010","unstructured":"Liu, X. et al. Novel USH2A compound heterozygous mutation cause RP\/USH2 in a Chinese family. Mol. Vis. 16, 454\u2013461 (2010).","journal-title":"Mol. Vis."},{"key":"87844_CR8","first-page":"2067","volume":"14","author":"H Dai","year":"2008","unstructured":"Dai, H. et al. Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. Mol. Vis. 14, 2067\u20132075 (2008).","journal-title":"Mol. Vis."},{"key":"87844_CR9","first-page":"700","volume":"24","author":"X Zhang","year":"2018","unstructured":"Zhang, X. et al. Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy. Mol. Vis. 24, 700\u2013711 (2018).","journal-title":"Mol. Vis."},{"key":"87844_CR10","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1007\/s00417-018-04206-w","volume":"257","author":"J Liang","year":"2019","unstructured":"Liang, J. et al. Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy. Graefes Arch. Clin. Exp. Ophthalmol. 257, 619\u2013628 (2019).","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"87844_CR11","doi-asserted-by":"publisher","first-page":"e1131","DOI":"10.1002\/mgg3.1131","volume":"8","author":"H Dan","year":"2020","unstructured":"Dan, H., Huang, X., Xing, Y. & Shen, Y. Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. Mol. Genet. Genomic Med. 8, e1131 (2020).","journal-title":"Mol. Genet. Genomic Med."},{"key":"87844_CR12","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1136\/jmedgenet-2018-105691","volume":"56","author":"Y Koyanagi","year":"2019","unstructured":"Koyanagi, Y. et al. Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. J. Med. Genet. 56, 662\u2013670 (2019).","journal-title":"J. Med. Genet."},{"key":"87844_CR13","doi-asserted-by":"publisher","first-page":"108389","DOI":"10.1016\/j.exer.2020.108389","volume":"202","author":"Z Sun","year":"2021","unstructured":"Sun, Z. et al. Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort. Exp. Eye Res. 202, 108389 (2021).","journal-title":"Exp. Eye Res."},{"key":"87844_CR14","unstructured":"Application of Whole Exome and Targeted Panel. Sequencing in the clinical molecular diagnosis of 319 Chinese families with inherited retinal dystrophy and comparison Study - PubMed. https:\/\/pubmed.ncbi.nlm.nih.gov\/30029497\/"},{"key":"87844_CR15","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1353\/hub.2021.0011","volume":"93","author":"SA Sahoo","year":"2021","unstructured":"Sahoo, S. A., Zaidi, R. A., Anagol, S. & Mathieson, I. Long runs of homozygosity are correlated with marriage preferences across Global Population samples. Hum. Biol. 93, 201\u2013216 (2021).","journal-title":"Hum. Biol."},{"key":"87844_CR16","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.3263-23","author":"M Ito","year":"2024","unstructured":"Ito, M. et al. Primary ciliary dyskinesia caused by homozygous DNAAF1 mutations resulting from a consanguineous marriage: A case report from Japan. Intern. Med. https:\/\/doi.org\/10.2169\/internalmedicine.3263-23 (2024).","journal-title":"Intern. Med."},{"key":"87844_CR17","first-page":"e53888","volume":"16","author":"AM Khayat","year":"2024","unstructured":"Khayat, A. M. et al. Consanguineous marriage and its association with genetic disorders in Saudi Arabia: A review. Cureus 16, e53888 (2024).","journal-title":"Cureus"},{"key":"87844_CR18","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1093\/hmg\/ddl473","volume":"16","author":"H Campbell","year":"2007","unstructured":"Campbell, H. et al. Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traits. Hum. Mol. Genet. 16, 233\u2013241 (2007).","journal-title":"Hum. Mol. Genet."},{"key":"87844_CR19","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.ogc.2017.02.004","volume":"44","author":"LM Carlson","year":"2017","unstructured":"Carlson, L. M. & Vora, N. L. Prenatal diagnosis: Screening and diagnostic tools. Obstet. Gynecol. Clin. North. Am. 44, 245\u2013256 (2017).","journal-title":"Obstet. Gynecol. Clin. North. Am."},{"key":"87844_CR20","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1086\/383096","volume":"74","author":"E van Wijk","year":"2004","unstructured":"van Wijk, E. et al. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am. J. Hum. Genet. 74, 738\u2013744 (2004).","journal-title":"Am. J. Hum. Genet."},{"key":"87844_CR21","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1016\/j.heares.2016.06.008","volume":"339","author":"BP Hartel","year":"2016","unstructured":"Hartel, B. P. et al. A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. Hear. Res. 339, 60\u201368 (2016).","journal-title":"Hear. Res."},{"key":"87844_CR22","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1002\/humu.24365","volume":"43","author":"RB Hufnagel","year":"2022","unstructured":"Hufnagel, R. B. et al. Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Hum. Mutat. 43, 613\u2013624 (2022).","journal-title":"Hum. Mutat."},{"key":"87844_CR23","doi-asserted-by":"publisher","first-page":"10498","DOI":"10.1038\/s41598-024-60989-5","volume":"14","author":"S Yanardag","year":"2024","unstructured":"Yanardag, S., Rhodes, S., Saravanan, T., Guan, T. & Ramamurthy, V. Prominin 1 is crucial for the early development of photoreceptor outer segments. Sci. Rep. 14, 10498 (2024).","journal-title":"Sci. Rep."},{"key":"87844_CR24","doi-asserted-by":"publisher","first-page":"4771","DOI":"10.1167\/iovs.09-4561","volume":"51","author":"M Michaelides","year":"2010","unstructured":"Michaelides, M. et al. The PROM1 variant p.R373C causes an autosomal dominant bull\u2019s eye maculopathy associated with rod, rod-cone, and macular dystrophy. Invest. Ophthalmol. Vis. Sci. 51, 4771\u20134780 (2010).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"87844_CR25","doi-asserted-by":"publisher","first-page":"a004481","DOI":"10.1101\/mcs.a004481","volume":"5","author":"SD Ragi","year":"2019","unstructured":"Ragi, S. D. et al. Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis. Cold Spring Harb. Mol. Case Stud. 5, a004481 (2019).","journal-title":"Cold Spring Harb Mol. Case Stud."},{"key":"87844_CR26","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1016\/j.ajo.2019.05.014","volume":"207","author":"M Del Pozo-Valero","year":"2019","unstructured":"Del Pozo-Valero, M. et al. Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1. Am. J. Ophthalmol. 207, 204\u2013214 (2019).","journal-title":"Am. J. Ophthalmol."},{"key":"87844_CR27","doi-asserted-by":"publisher","first-page":"a017376","DOI":"10.1101\/cshperspect.a017376","volume":"4","author":"SM Conley","year":"2014","unstructured":"Conley, S. M. & Naash, M. I. Gene therapy for PRPH2-associated ocular disease: Challenges and prospects. Cold Spring Harb. Perspect. Med. 4, a017376 (2014).","journal-title":"Cold Spring Harb Perspect. Med."},{"key":"87844_CR28","doi-asserted-by":"publisher","first-page":"1526","DOI":"10.1038\/s41598-021-81093-y","volume":"11","author":"I Perea-Romero","year":"2021","unstructured":"Perea-Romero, I. et al. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Sci. Rep. 11, 1526 (2021).","journal-title":"Sci. Rep."},{"key":"87844_CR29","first-page":"326","volume":"24","author":"A Wawrocka","year":"2018","unstructured":"Wawrocka, A. et al. Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy. Mol. Vis. 24, 326\u2013339 (2018).","journal-title":"Mol. Vis."},{"key":"87844_CR30","doi-asserted-by":"publisher","first-page":"3776","DOI":"10.1111\/jcmm.14278","volume":"23","author":"J Cheng","year":"2019","unstructured":"Cheng, J. et al. A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree. J. Cell. Mol. Med. 23, 3776\u20133780 (2019).","journal-title":"J. Cell. Mol. Med."},{"key":"87844_CR31","doi-asserted-by":"publisher","first-page":"R530","DOI":"10.1016\/j.cub.2021.03.081","volume":"31","author":"G Pigino","year":"2021","unstructured":"Pigino, G. Intraflagellar transport. Curr. Biol. 31, R530\u2013R536 (2021).","journal-title":"Curr. Biol."},{"key":"87844_CR32","doi-asserted-by":"publisher","first-page":"4514967","DOI":"10.1155\/2021\/4514967","volume":"2021","author":"Y Zhang","year":"2021","unstructured":"Zhang, Y., Xu, M., Zhang, M., Yang, G. & Li, X. A novel BBS9 mutation identified via whole-exome sequencing in a Chinese family with Bardet-Biedl syndrome. Biomed. Res. Int. 2021, 4514967 (2021).","journal-title":"Biomed. Res. Int."},{"key":"87844_CR33","doi-asserted-by":"publisher","first-page":"e1731","DOI":"10.1002\/mgg3.1731","volume":"9","author":"HY Tang","year":"2021","unstructured":"Tang, H. Y., Xie, F., Dai, R. C. & Shi, X. L. Novel homozygous protein-truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet-Biedl syndrome. Mol. Genet. Genomic Med. 9, e1731 (2021).","journal-title":"Mol. Genet. Genomic Med."},{"key":"87844_CR34","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1186\/s12920-021-00943-w","volume":"14","author":"J Su\u00e1rez-Gonz\u00e1lez","year":"2021","unstructured":"Su\u00e1rez-Gonz\u00e1lez, J., Seidel, V., Andr\u00e9s-Zayas, C., Izquierdo, E. & Bu\u00f1o, I. Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations. BMC Med. Genomics. 14, 91 (2021).","journal-title":"BMC Med. Genomics"},{"key":"87844_CR35","doi-asserted-by":"publisher","first-page":"101029","DOI":"10.1016\/j.preteyeres.2021.101029","volume":"89","author":"N Schneider","year":"2022","unstructured":"Schneider, N. et al. Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities. Prog. Retin. Eye Res. 89, 101029 (2022).","journal-title":"Prog. Retin. Eye Res."},{"key":"87844_CR36","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1038\/s41436-020-0759-8","volume":"22","author":"E Zampaglione","year":"2020","unstructured":"Zampaglione, E. et al. Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Genet. Med. 22, 1079\u20131087 (2020).","journal-title":"Genet. Med."},{"key":"87844_CR37","unstructured":"World Health Organization. World Report on Vision 180 (Geneva, 2019)."},{"key":"87844_CR38","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","volume":"22","author":"ER Riggs","year":"2020","unstructured":"Riggs, E. R. et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet. Med. 22, 245\u2013257 (2020).","journal-title":"Genet. Med."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-87844-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-87844-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-87844-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:17:55Z","timestamp":1737677875000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-87844-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,24]]},"references-count":38,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["87844"],"URL":"https:\/\/doi.org\/10.1038\/s41598-025-87844-5","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-4776885\/v1","asserted-by":"object"}]},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,24]]},"assertion":[{"value":"21 July 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The Ethics Committee on Human Research at People Hospital in the Ningxia Hui Autonomous Region accepted and examined our work (reference number: 2022-KJCG-006), which adhered to the Declaration of Helsinki. Each participant or their legal guardians provided their written informed permission before to taking part.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}],"article-number":"3043"}}