{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:50:13Z","timestamp":1790877013681,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2007,3,2]],"date-time":"2007-03-02T00:00:00Z","timestamp":1172793600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Norrie disease (ND) is a rare X\u2010linked recessive disorder characterized by congenital blindness and in some cases, mental retardation and deafness. Other neurological complications, particularly epilepsy, are rare. We report on a novel mutation identified in a patient with ND and profound mental retardation. The patient was diagnosed at the age of 6 months due to congenital blindness. At the age of 8 months he developed infantile spasms, which were diagnosed at 11 months as his EEG demonstrated hypsarrhythmia. Mutation analysis of the ND gene (<jats:italic>NDP<\/jats:italic>) of the affected child and his mother revealed a novel missense mutation at position c.134T\u2009&gt;\u2009A resulting in amino acid change at codon V45E. To the best of our knowledge, such severe neurological involvement has not been previously reported in ND patients. The severity of the phenotype may suggest the functional importance of this site of the <jats:italic>NDP<\/jats:italic> gene. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31531","type":"journal-article","created":{"date-parts":[[2007,3,2]],"date-time":"2007-03-02T18:24:59Z","timestamp":1172859899000},"page":"921-924","source":"Crossref","is-referenced-by-count":22,"title":["A novel missense mutation in the <i>NDP<\/i> gene in a child with Norrie disease and severe neurological involvement including infantile spasms"],"prefix":"10.1002","volume":"143A","author":[{"given":"Dorit","family":"Lev","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuval","family":"Weigl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Hasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Gak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Davidovich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chana","family":"Vinkler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Leshinsky\u2010Silver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tally","family":"Lerman\u2010Sagie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Watemberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,3,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.7.461"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284575"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818809031489"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-204"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-180"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1093\/hmg\/4.suppl_1.1729","article-title":"Norrie disease and MAO genes: Nearest neighbors","volume":"4","author":"Chen ZY","year":"1995","journal-title":"Hum Mol Genet"},{"key":"e_1_2_6_8_1","first-page":"885","article-title":"Comparative genomics on Norrie disease gene","volume":"15","author":"Katoh M","year":"2005","journal-title":"Int J Mol Med"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-139"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.3.489"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-376"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.52.33410"},{"key":"e_1_2_6_13_1","first-page":"705","article-title":"Genotype\u2013phenotype variations in five Spanish families with Norrie disease or X\u2010linked FEVR","volume":"11","author":"Riveiro\u2010Alvarez R","year":"2005","journal-title":"Mol Vis"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9204"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380050403"},{"key":"e_1_2_6_16_1","first-page":"1","article-title":"Norrie's disease: A congenital progressive oculoacoustico\u2010cerebral degeneration","volume":"89","author":"Warburg M","year":"1966","journal-title":"Acta Ophthalmol Scand Suppl"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010415)100:1<52::AID-AJMG1214>3.0.CO;2-B"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31531","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31531","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:42:36Z","timestamp":1697636556000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31531"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,2]]},"references-count":16,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["10.1002\/ajmg.a.31531"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31531","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,3,2]]}}}