{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T23:44:39Z","timestamp":1770680679722,"version":"3.49.0"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T00:00:00Z","timestamp":1660262400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100017291","name":"Zhongshan Science and Technology Bureau","doi-asserted-by":"publisher","award":["2020B1057 2021B1084"],"award-info":[{"award-number":["2020B1057 2021B1084"]}],"id":[{"id":"10.13039\/501100017291","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>A Norrie disease protein gene (<jats:italic>NDP<\/jats:italic>) variant, c.174 + 1G &amp;gt; A, was found in a Chinese family through next-generation sequencing and verified with Sanger sequencing. A case of Norrie disease was reported in the first child, and the symptoms were consistent with the results of gene sequencing. The child\u2019s mother, who was pregnant at the time, was found to be a carrier of the identified pathogenic variant. To determine if the fetus carried the same disease-causing variant, prenatal examination and prenatal diagnosis were conducted. The fetus had biocular vitreous abnormalities and complete retinal abnormalities. Genetic testing showed that the fetus had maternally inherited the <jats:italic>NDP<\/jats:italic> gene variant found in the proband. It was concurrently confirmed that the <jats:italic>NDP<\/jats:italic> gene variant led to the deletion of 246\u00a0bp at the 3\u2032 end of exon 2, resulting in the deletion of the initiation codon and the occurrence of disease. Our study suggests that the diagnosis of rare diseases through next-generation sequencing, combined with prenatal ultrasound and prenatal diagnosis, can help families with known familial genetic diseases. Furthermore, the findings of this study broaden the known genetic spectrum of Norrie disease.<\/jats:p>","DOI":"10.3389\/fgene.2022.870232","type":"journal-article","created":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T06:19:55Z","timestamp":1660285195000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation"],"prefix":"10.3389","volume":"13","author":[{"given":"Haijun","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiming","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Degang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuanming","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiqiang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinhua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chenxia","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingsheng","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1111\/cxo.12599","article-title":"A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease","volume":"101","author":"Andarva","year":"2018","journal-title":"Clin. 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