{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T10:25:45Z","timestamp":1783938345355,"version":"3.55.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,7]]},"DOI":"10.7759\/cureus.73252","type":"journal-article","created":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T05:05:59Z","timestamp":1731042359000},"source":"Crossref","is-referenced-by-count":2,"title":["The First Case Report of a Homozygous Consensus Acceptor Splice Variant in the NUP214 Gene Associated With Fetal Hydrops and Arthrogryposis Multiplex"],"prefix":"10.7759","author":[{"given":"Vasundhara","family":"Tamhankar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smit J","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tushar","family":"Kachhadiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalin","family":"Vaniawala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayeshkumar","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajesh","family":"Bhammar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shwetal","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salil","family":"Vaniawala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pramila","family":"Menon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parag M","family":"Tamhankar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01979-w","article-title":"NUP214 deficiency causes severe encephalopathy and microcephaly in humans","volume":"138","author":"Shamseldin HE","year":"2019","unstructured":"Shamseldin HE, Makhseed N, Ibrahim N, Al-Sheddi T, Alobeid E, Abdulwahab F, Alkuraya FS. NUP214 deficiency causes severe encephalopathy and microcephaly in humans. Hum Genet. 2019, 138:221-9. 10.1007\/s00439-019-01979-w","journal-title":"Hum Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.05.003","article-title":"Pathogenic variants in NUP214 cause \"plugged\" nuclear pore channels and acute febrile encephalopathy","volume":"105","author":"Fichtman B","year":"2019","unstructured":"Fichtman B, Harel T, Biran N, et al.. Pathogenic variants in NUP214 cause \"plugged\" nuclear pore channels and acute febrile encephalopathy. Am J Hum Genet. 2019, 105:48-64. 10.1016\/j.ajhg.2019.05.003","journal-title":"Am J Hum Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5505","article-title":"Fetal arthrogryposis multiplex congenita\/fetal akinesia deformation sequence (FADS)-aetiology, diagnosis, and management","volume":"39","author":"Niles KM","year":"2019","unstructured":"Niles KM, Blaser S, Shannon P, Chitayat D. Fetal arthrogryposis multiplex congenita\/fetal akinesia deformation sequence (FADS)-aetiology, diagnosis, and management. Prenat Diagn. 2019, 39:720-31. 10.1002\/pd.5505","journal-title":"Prenat Diagn"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4011","article-title":"Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis","volume":"33","author":"Filges I","year":"2013","unstructured":"Filges I, Hall JG. Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. Prenat Diagn. 2013, 33:61-74. 10.1002\/pd.4011","journal-title":"Prenat Diagn"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts526","article-title":"A robust model for read count data in exome sequencing experiments and implications for copy number variant calling","volume":"28","author":"Plagnol V","year":"2012","unstructured":"Plagnol V, Curtis J, Epstein M, et al.. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics. 2012, 28:2747-54. 10.1093\/bioinformatics\/bts526","journal-title":"Bioinformatics"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015, 17:405-24. 10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007845","article-title":"Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence","volume":"14","author":"Bonnin E","year":"2018","unstructured":"Bonnin E, Cabochette P, Filosa A, et al.. Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS Genet. 2018, 14:e1007845. 10.1371\/journal.pgen.1007845","journal-title":"PLoS Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e02-09-0582","article-title":"Nup98 localizes to both nuclear and cytoplasmic sides of the nuclear pore and binds to two distinct nucleoporin subcomplexes","volume":"14","author":"Griffis ER","year":"2003","unstructured":"Griffis ER, Xu S, Powers MA. Nup98 localizes to both nuclear and cytoplasmic sides of the nuclear pore and binds to two distinct nucleoporin subcomplexes. Mol Biol Cell. 2003, 14:600-10. 10.1091\/mbc.e02-09-0582","journal-title":"Mol Biol Cell"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M512585200","article-title":"Nup214-Nup88 nucleoporin subcomplex is required for CRM1-mediated 60 S preribosomal nuclear export","volume":"281","author":"Bernad R","year":"2006","unstructured":"Bernad R, Engelsma D, Sanderson H, Pickersgill H, Fornerod M. Nup214-Nup88 nucleoporin subcomplex is required for CRM1-mediated 60 S preribosomal nuclear export. J Biol Chem. 2006, 281:19378-86. 10.1074\/jbc.M512585200","journal-title":"J Biol Chem"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.09.023","article-title":"Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease","volume":"155","author":"Folkmann AW","year":"2013","unstructured":"Folkmann AW, Collier SE, Zhan X, Aditi, Ohi MD, Wente SR. Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease. Cell. 2013, 155:582-93. 10.1016\/j.cell.2013.09.023","journal-title":"Cell"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.65","article-title":"Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease","volume":"40","author":"Nousiainen HO","year":"2008","unstructured":"Nousiainen HO, Kestil\u00e4 M, Pakkasj\u00e4rvi N, et al.. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet. 2008, 40:155-7. 10.1038\/ng.2007.65","journal-title":"Nat Genet"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.19682","article-title":"Novel consensus splice site pathogenic variation in THOC2 gene leads to recurrent arthrogryposis multiplex congenita phenotype: a case report","volume":"13","author":"Tamhankar V","year":"2021","unstructured":"Tamhankar V, Tamhankar P, Chaubal R, Chaubal J, Chaubal N. Novel consensus splice site pathogenic variation in THOC2 gene leads to recurrent arthrogryposis multiplex congenita phenotype: a case report. Cureus. 2021, 13:e19682. 10.7759\/cureus.19682","journal-title":"Cureus"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2023.09.009","article-title":"Muscular phenotype description of abnormal THOC2 splicing","volume":"33","author":"Dubucs C","year":"2023","unstructured":"Dubucs C, Rendu J, Michel-Calemard L, et al.. Muscular phenotype description of abnormal THOC2 splicing. Neuromuscul Disord. 2023, 33:978-82. 10.1016\/j.nmd.2023.09.009","journal-title":"Neuromuscul Disord"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw054","article-title":"Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects","volume":"25","author":"Casey JP","year":"2016","unstructured":"Casey JP, Brennan K, Scheidel N, et al.. Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. Hum Mol Genet. 2016, 25:1824-35. 10.1093\/hmg\/ddw054","journal-title":"Hum Mol Genet"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2009.09.038","article-title":"An autoinhibitory tyrosine motif in the cell-cycle-regulated Nek7 kinase is released through binding of Nek9","volume":"36","author":"Richards MW","year":"2009","unstructured":"Richards MW, O'Regan L, Mas-Droux C, et al.. An autoinhibitory tyrosine motif in the cell-cycle-regulated Nek7 kinase is released through binding of Nek9. Mol Cell. 2009, 36:560-70. 10.1016\/j.molcel.2009.09.038","journal-title":"Mol Cell"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/314348-the-first-case-report-of-a-homozygous-consensus-acceptor-splice-variant-in-the-nup214-gene-associated-with-fetal-hydrops-and-arthrogryposis-multiplex","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T05:06:00Z","timestamp":1731042360000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/314348-the-first-case-report-of-a-homozygous-consensus-acceptor-splice-variant-in-the-nup214-gene-associated-with-fetal-hydrops-and-arthrogryposis-multiplex"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,7]]},"references-count":15,"URL":"https:\/\/doi.org\/10.7759\/cureus.73252","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,11,7]]}}}