{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:37Z","timestamp":1753869697176,"version":"3.41.2"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T00:00:00Z","timestamp":1703548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>Norrie disease (ND) is a rare X\u2010linked recessive disorder characteristic of early childhood blindness. While several mutations in the <jats:italic>NDP<\/jats:italic> gene have been reported as causative for ND, the genetic etiology remains unknown for many patients. This study aims to describe a novel mutation and explore the clinical manifestations in a Chinese family with two affected males.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Exome sequencing (ES) was employed to identify the causative gene in a four\u2010generation pedigree. Sanger sequencing was subsequently utilized to validate the mutation detected by ES in additional family members. Ophthalmologic examination and diagnostic imaging relevant to ND were conducted.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband (IV:2), an 8\u2010month\u2010old male infant, presented with binocular retinal detachment. DNA sequencing revealed a novel heterozygous missense mutation (c.174G&gt;C) within the <jats:italic>NDP<\/jats:italic> gene in the proband. This mutation affected highly conserved residues and was predicted to disrupt the normal protein structure. Furthermore, the variant co\u2010segregated with the disease phenotypes within the family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings identified a novel missense mutation in the NDP gene associated with Norrie disease in China, expanding the mutation spectrum associated with ND. This discovery holds diagnostic, prognostic, and genetic counseling implications for affected individuals.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2345","type":"journal-article","created":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T13:09:35Z","timestamp":1703596175000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel mutation in the <i>NDP<\/i> gene associated with Norrie disease in a Chinese pedigree"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6051-4164","authenticated-orcid":false,"given":"Keke","family":"Jiang","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Zhengda Guangming Ophthalmology Group Weifang Eye Hospital  Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuying","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Gaomi People's Hospital  Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huixin","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Weifang Medical University  Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuanzhi","family":"Peng","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Weifang Medical University  Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Zhengda Guangming Ophthalmology Group Weifang Eye Hospital  Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuchan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Zhengda Guangming Ophthalmology Group Weifang Eye Hospital  Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rongyu","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Zhengda Guangming Ophthalmology Group Weifang Eye Hospital  Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Zhengda Guangming Ophthalmology Group Weifang Eye Hospital  Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,26]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1205"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cxo.12599"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-199"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-204"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2004.05.039"},{"key":"e_1_2_11_8_1","unstructured":"Daiger S. 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