{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:29:06Z","timestamp":1789784946667,"version":"4.0.1"},"reference-count":10,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,14]],"date-time":"2020-09-14T00:00:00Z","timestamp":1600041600000},"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":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>NFIA<\/jats:italic>\u00a0gene (OMIM*600727) has been shown to be associated with\u00a0a syndrome of\u00a0central nervous system malformations (corpus callosum and ventriculomegaly)\u00a0with or without urinary tract defects(BRMUTD)\u00a0(OMIM#613735) with a low incidence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods\u00a0and\u00a0Results<\/jats:title><jats:p><jats:bold>\u00a0<\/jats:bold> We presented the clinical data of a 3\u2010month\u2010old Chinese\u00a0infant with clinical features such as thin corpus callosum, ventriculomegaly, development delay, and dysmorphic features (macrocephaly, hypertelorism, slightly pointed chin, broad forehead, and large ears).<jats:bold>\u00a0<\/jats:bold>Genomic DNA was extracted for Trio Whole Exome Sequencing.\u00a0Preliminary genetic tests revealed\u00a0one de novo heterozygous\u00a0nonsense\u00a0mutation c.220\u00a0C&gt;T (p.Arg74Ter) of\u00a0the <jats:italic>NFIA<\/jats:italic>\u00a0gene (NM_005595).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>\u00a0Genetic DNA sequencing is a crucial method for diagnosing\u00a0BRMUTD. This approach\u00a0enriches the\u00a0genotype and spectrum of BRMUTD syndrome and the outcome of the patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1492","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T22:13:57Z","timestamp":1601331237000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A novel <i>NFIA<\/i> gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6252-776X","authenticated-orcid":false,"given":"Yan","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neurology Xiamen Children's Hospital  Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cai Mei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology Xiamen Children's Hospital  Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao Lan","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Neurology Xiamen Children's Hospital  Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuerbanjiang","family":"Abuduxikuer","sequence":"additional","affiliation":[{"name":"Department of Hepatology Children\u2019s Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.00000\u200b00000\u200b000182"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.04.009"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journ\u200bal.pgen.0030080"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.21.6438"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2015.7"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.00000\u200b00000\u200b000079"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.11.6273"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38460"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/13.14.5173"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febsl\u200bet.2009.08.026"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1492","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1492","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1492","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T11:58:37Z","timestamp":1708516717000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1492"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,14]]},"references-count":10,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1002\/mgg3.1492"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1492","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,14]]},"assertion":[{"value":"2020-04-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1492"}}