{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T13:29:45Z","timestamp":1777555785177,"version":"3.51.4"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T00:00:00Z","timestamp":1704412800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1R01HD093570\u201001A1"],"award-info":[{"award-number":["1R01HD093570\u201001A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nucleoporins (NUPs) are a group of transporter proteins that maintain homeostasis of nucleocytoplasmic transport of proteins and ribonucleic acids under physiological conditions. Biallelic pathogenic variants in <jats:italic>NUP214<\/jats:italic> are known to cause susceptibility to acute infection\u2010induced encephalopathy\u20109 (IIAE9, MIM#618426), which is characterized by severe and early\u2010onset febrile encephalopathy causing neuroregression, developmental delay, microcephaly, epilepsy, ataxia, brain atrophy, and early death. <jats:italic>NUP214<\/jats:italic>\u2010related IIAE9 has been reported in eight individuals from four distinct families till date. We identified a novel in\u2010frame deletion, c.202_204del p.(Leu68del), in <jats:italic>NUP214<\/jats:italic> by exome sequencing in a 20\u2010year\u2010old male with episodic ataxia, seizures, and encephalopathy, precipitated by febrile illness. Neuroimaging revealed progressive cerebellar atrophy. <jats:italic>In silico<\/jats:italic> predictions show a change in the protein conformation that may alter the downstream protein interactions with the NUP214 N\u2010terminal region, probably impacting the mRNA export. We report this novel deletion in <jats:italic>NUP214<\/jats:italic> as a cause for a late onset and less severe form of IIAE9.<\/jats:p>","DOI":"10.1002\/ajmg.a.63529","type":"journal-article","created":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T10:18:55Z","timestamp":1704449935000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["c.202_204del in <scp><i>NUP214<\/i><\/scp> causes late onset form of febrile encephalopathy"],"prefix":"10.1002","volume":"194","author":[{"given":"Sheeba","family":"Farooqui","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhanya Lakshmi","family":"Narayanan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"},{"name":"DBT\/Wellcome Trust India Alliance Early Career Clinical and Public Health Research Fellow  Hyderabad India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selinda","family":"Mascarenhas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle C.","family":"do Rosario","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karthik Vijay","family":"Nair","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal 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