{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:28:00Z","timestamp":1790015280715,"version":"4.0.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,2,15]],"date-time":"2021-02-15T00:00:00Z","timestamp":1613347200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,2,15]],"date-time":"2021-02-15T00:00:00Z","timestamp":1613347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Ophthalmol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Purpose<\/jats:title>\n                <jats:p>This study aims to analyze the Norrie disease gene (<jats:italic>NDP<\/jats:italic>) variants in patients with familial exudative vitreoretinopathy (FEVR) and their clinical features.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Thirty-three Chinese patients (22 familial and 11 simplex) who were diagnosed as FEVR underwent detailed ocular examinations in Beijing Tongren Hospital. Peripheral venous blood was drawn from the patients and their family members for the extraction of genomic DNA. All exons of <jats:italic>NDP<\/jats:italic> gene were analyzed by direct sequencing of PCR-amplified DNA fragments.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Four novel mutations in <jats:italic>NDP<\/jats:italic> gene were identified in four X-linked FEVR families: a C\u2009\u2192\u2009T transversion, c. 625C\u2009\u2192\u2009T, in exon 3, resulting in a serine-to-proline change in codon 73 (S73P); a C\u2009\u2192\u2009G transition, c. 751C\u2009\u2192\u2009G, in exon 3, resulting in an arginine-to-glycine change in codon 115 (R115G); a T\u2009\u2192\u2009C transversion of nucleotide 331 at 5\u2019UTR in exon 2 (c.331\u2009T\u2009\u2192\u2009C); and a C\u2009\u2192\u2009T transversion of the nucleotide 5 in intron 1 (IVS1\u2009+\u20095C\u2009\u2192\u2009T). The mutations were not present in the control group (<jats:italic>n<\/jats:italic>\u2009=\u2009100).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our results extend the spectrum of <jats:italic>NDP<\/jats:italic> gene mutations. The mutations in the non-coding region of <jats:italic>NDP<\/jats:italic> may play a crucial role in the pathogenesis of FEVR.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12886-021-01852-3","type":"journal-article","created":{"date-parts":[[2021,2,17]],"date-time":"2021-02-17T14:23:12Z","timestamp":1613571792000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy"],"prefix":"10.1186","volume":"21","author":[{"given":"Li-Yun","family":"Jia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,15]]},"reference":[{"key":"1852_CR1","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1016\/0002-9394(69)91237-9","volume":"68","author":"VG Criswick","year":"1969","unstructured":"Criswick VG, Schepens CL. 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Informed consent was obtained from all the volunteers after providing a detailed explanation of the study.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The informed consent for the study is attached, and the paper was approved by the parents of the participants. All the original documents were kept and managed by the hospital.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Non-financial competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"84"}}