{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T03:52:38Z","timestamp":1785901958052,"version":"3.56.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2018,2,15]],"date-time":"2018-02-15T00:00:00Z","timestamp":1518652800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1038\/s41431-018-0097-3","type":"journal-article","created":{"date-parts":[[2018,2,15]],"date-time":"2018-02-15T13:17:27Z","timestamp":1518700647000},"page":"592-598","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability"],"prefix":"10.1038","volume":"26","author":[{"given":"Aida M.","family":"Bertoli-Avella","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose M.","family":"Garcia-Aznar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Brandau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fahad","family":"Al-Hakami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2085-5773","authenticated-orcid":false,"given":"Zafer","family":"Y\u00fcksel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anett","family":"Marais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nana-Maria","family":"Gr\u00fcning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lia","family":"Abbasi Moheb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omid","family":"Paknia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nahla","family":"Alshaikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seham","family":"Alameer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0853-2039","authenticated-orcid":false,"given":"Makia J.","family":"Marafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fahd","family":"Al-Mulla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nouriya","family":"Al-Sannaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,2,15]]},"reference":[{"key":"97_CR1","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1038\/nrg3934","volume":"16","author":"NN Parikshak","year":"2015","unstructured":"Parikshak NN, Gandal MJ, Geschwind DH. Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. Nat Rev Genet. 2015;16:441\u201358.","journal-title":"Nat Rev Genet"},{"key":"97_CR2","doi-asserted-by":"publisher","first-page":"103","DOI":"10.3109\/01677063.2015.1060972","volume":"29","author":"YT Liu","year":"2015","unstructured":"Liu YT, Lee YC, Soong BW. What we have learned from the next-generation sequencing: contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases. J Neurogenet. 2015;29:103\u201312.","journal-title":"J Neurogenet"},{"key":"97_CR3","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1002\/humu.23145","volume":"38","author":"L Matalonga","year":"2017","unstructured":"Matalonga L, Bravo M, Serra-Peinado C, et al. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Hum Mut. 2017;38:148\u201351.","journal-title":"Hum Mut"},{"key":"97_CR4","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1126\/science.1247363","volume":"343","author":"G Novarino","year":"2014","unstructured":"Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014;343:506\u201311.","journal-title":"Science"},{"key":"97_CR5","doi-asserted-by":"publisher","first-page":"216 e211","DOI":"10.1016\/j.neurobiolaging.2015.10.034","volume":"38","author":"E Jaberi","year":"2016","unstructured":"Jaberi E, Rohani M, Shahidi GA, et al. Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain. Neurobiol Aging. 2016;38:216 e211\u2013216 e218.","journal-title":"Neurobiol Aging"},{"key":"97_CR6","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1126\/science.1249749","volume":"345","author":"R Ishimura","year":"2014","unstructured":"Ishimura R, Nagy G, Dotu I, et al. RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration. Science. 2014;345:455\u20139.","journal-title":"Science"},{"key":"97_CR7","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1038\/ejhg.2016.146","volume":"25","author":"D Trujillano","year":"2017","unstructured":"Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, et al. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet. 2017;25:176\u201382.","journal-title":"Eur J Hum Genet"},{"key":"97_CR8","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164.","journal-title":"Nucleic Acids Res"},{"key":"97_CR9","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1002\/mgg3.262","volume":"5","author":"D Trujillano","year":"2017","unstructured":"Trujillano D, Oprea GE, Schmitz Y, Bertoli-Avella AM, Abou Jamra R, Rolfs A. A comprehensive global genotype-phenotype database for rare diseases. Mol Genet Genom Med. 2017;5:66\u201375.","journal-title":"Mol Genet Genom Med"},{"key":"97_CR10","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1086\/503875","volume":"78","author":"CG Woods","year":"2006","unstructured":"Woods CG, Cox J, Springell K, et al. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet. 2006;78:889\u201396.","journal-title":"Am J Hum Genet"},{"key":"97_CR11","unstructured":"Gregory A, Hayflick S. Neurodegeneration with brain iron accumulation disorders overview. In: Pagon RA, Adam MP, Ardinger HH et al. (eds). GeneReviews(R), Seattle (WA): 1993."},{"key":"97_CR12","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-015-0608-3","volume":"16","author":"SA Schneider","year":"2016","unstructured":"Schneider SA. Neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep. 2016;16:9.","journal-title":"Curr Neurol Neurosci Rep"},{"key":"97_CR13","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1126\/science.1257193","volume":"345","author":"JC Darnell","year":"2014","unstructured":"Darnell JC. Molecular biology. Ribosome rescue and neurodegeneration. Science. 2014;345:378\u20139.","journal-title":"Science"},{"key":"97_CR14","doi-asserted-by":"crossref","unstructured":"Ishimura R, Nagy G, Dotu I, Chuang JH, Ackerman SL. Activation of GCN2 kinase by ribosome stalling links translation elongation with translation initiation. Elife. 2016;5: e14295.","DOI":"10.7554\/eLife.14295"},{"key":"97_CR15","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1016\/j.gde.2013.02.002","volume":"23","author":"RC Wallen","year":"2013","unstructured":"Wallen RC, Antonellis A. To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations. Curr Opin Genet Dev. 2013;23:302\u20139.","journal-title":"Curr Opin Genet Dev"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41431-018-0097-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41431-018-0097-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41431-018-0097-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T21:41:59Z","timestamp":1684618919000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-018-0097-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,15]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["97"],"URL":"https:\/\/doi.org\/10.1038\/s41431-018-0097-3","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,15]]},"assertion":[{"value":"12 July 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 November 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 January 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 February 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"A.M.B.-A., Z.Y., A.M., M.C., O.P., P.B., and A.R. are employees of Centogene A.G.; J.G.A. and O.B. are former employees of the company.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}