{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T02:06:02Z","timestamp":1782785162486,"version":"3.54.5"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2021,1]]},"DOI":"10.1007\/s11033-020-06097-9","type":"journal-article","created":{"date-parts":[[2021,1,3]],"date-time":"2021-01-03T22:03:09Z","timestamp":1609711389000},"page":"701-708","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder"],"prefix":"10.1007","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0464-6565","authenticated-orcid":false,"given":"Mustafa","family":"Dogan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerem","family":"Teral\u0131","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Recep","family":"Eroz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huseyin","family":"Demirci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenan","family":"Kocabay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,1,3]]},"reference":[{"issue":"9","key":"6097_CR1","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1002\/humu.22816","volume":"36","author":"L Addis","year":"2015","unstructured":"Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, D eb, K. P. (2015) Microdeletions of ELP4 are associated with language impairment, autism Spectrum disorder, and intellectual disability. Hum Mutat 36(9):842\u2013850. https:\/\/doi.org\/10.1002\/humu.22816","journal-title":"Hum Mutat"},{"key":"6097_CR2","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/j.jbi.2016.02.013","volume":"60","author":"M Akgun","year":"2016","unstructured":"Akgun M, Gerdan OF, Gormez Z, Demirci H (2016) FMFilter: a fast model based variant filtering tool. J Biomed Inform 60:319\u2013327. https:\/\/doi.org\/10.1016\/j.jbi.2016.02.013","journal-title":"J Biomed Inform"},{"key":"6097_CR3","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1111\/j.1469-8749.1998.tb15410.x","volume":"40","author":"N Badawi","year":"1998","unstructured":"Badawi N, Watson L, Petterson B, Blair E, Slee J, Haan E, Stanley F (1998) What constitutes cerebral palsy? Dev Med Child Neurol 40:520\u2013527","journal-title":"Dev Med Child Neurol"},{"key":"6097_CR4","doi-asserted-by":"publisher","first-page":"W306","DOI":"10.1093\/nar\/gki375","volume":"33","author":"E Capriotti","year":"2005","unstructured":"Capriotti E, Fariselli P, Casadio R (2005) I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res 33:W306\u2013W310","journal-title":"Nucleic Acids Res"},{"key":"6097_CR5","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1016\/j.molcel.2006.04.017","volume":"22","author":"P Close","year":"2006","unstructured":"Close P, Hawkes N, Cornez I, Creppe C, Lambert CA, Rogister B, Chariot A (2006) Transcription impairment and cellmigration defects in elongator-depleted cells: implication for familial dysautonomia. Mol Cell 22:521\u2013531. https:\/\/doi.org\/10.1016\/j.molcel.2006.04.017","journal-title":"Mol Cell"},{"key":"6097_CR6","doi-asserted-by":"publisher","first-page":"1391","DOI":"10.1002\/ajmg.a.36935","volume":"167A","author":"JS Cohen","year":"2015","unstructured":"Cohen JS, Srivastava S, Farwell KD, Lu HM, Zeng W, Lu H, Chao EC, Fatemi A (2015) ELP2 is a novel gene implicated in neurodevelopmental disabilities. Am J Med Genet Part A 167A:1391\u20131395. https:\/\/doi.org\/10.1002\/ajmg.a.36935","journal-title":"Am J Med Genet Part A"},{"issue":"3","key":"6097_CR7","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1016\/j.cell.2008.11.043","volume":"136","author":"C Creppe","year":"2009","unstructured":"Creppe C, Malinouskaya L, Volvert ML, Gillard M, Close P, Malaise O, Laguesse S, Cornez I, Rahmouni S, Ormenese S, Belachew S, Malgrange B, Chapelle JP, Siebenlist U, Moonen G, Chariot A, Nyugen L (2009) Elongator controls the migration and differentiation of cortical neurons through acetylation ofalpha-tubulin. Cell 136(3):551\u2013564. https:\/\/doi.org\/10.1016\/j.cell.2008.11.043","journal-title":"Cell"},{"key":"6097_CR8","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1016\/j.celrep.2015.09.009","volume":"13","author":"M Dalvai","year":"2015","unstructured":"Dalvai M, Loehr J, Jacquet K, Huard CC, Roques C, Herst P, Cote J, Doyon Y (2015) A scalable genome-editing-based approach for mapping multiprotein complexes in human cells. Cell Rep 13:621\u2013633. https:\/\/doi.org\/10.1016\/j.celrep.2015.09.009","journal-title":"Cell Rep"},{"issue":"9","key":"6097_CR9","doi-asserted-by":"publisher","first-page":"1613","DOI":"10.1007\/s00018-018-2747-6","volume":"75","author":"U Dalwadi","year":"2018","unstructured":"Dalwadi U, Yip CK (2018) Structural insights into the function of Elongator. Cell Mol Life Sci 75(9):1613\u20131622. https:\/\/doi.org\/10.1007\/s00018-018-2747-6","journal-title":"Cell Mol Life Sci"},{"issue":"2","key":"6097_CR10","doi-asserted-by":"publisher","first-page":"264","DOI":"10.15252\/embr.20164335","volume":"18","author":"MI Dauden","year":"2017","unstructured":"Dauden MI, Kosinski J, Kolaj-Robin O, Desfosses A, Ori A, Faux C, Hoffmann NA, Onuma OF, Breuning KD, Beck M, Sachse C, Seraphin B, Glatt S, M\u00fcller CW (2017) Architecture of the yeast Elongator complex. EMBO Rep 18(2):264\u2013279. https:\/\/doi.org\/10.15252\/embr.20164335","journal-title":"EMBO Rep"},{"issue":"7","key":"6097_CR11","doi-asserted-by":"publisher","first-page":"eaaw2326","DOI":"10.1126\/sciadv.aaw2326","volume":"5","author":"MI Dauden","year":"2019","unstructured":"Dauden MI, Jaciuk M, Weis F, Lin T, Kleindienst C, Abbassi NEH, Khatter H, Krutyho\u0142owa R, Breunig KD, Kosinski J, M\u00fcller CW, Glatt S (2019) Molecular basis of tRNA recognition by the Elongator complex. Sci Adv 5(7):eaaw2326","journal-title":"Sci Adv"},{"issue":"suppl_2","key":"6097_CR12","doi-asserted-by":"publisher","first-page":"W13","DOI":"10.1093\/nar\/gkr245","volume":"39","author":"P Di Tommaso","year":"2011","unstructured":"Di Tommaso P, Moretti S, Xenarios I, Orobitg M, Montanyola A, Chang J, Taly J, Notredame C (2011) T-Coffee: a web server for the multiple sequence alignment of protein and RNA sequences using structural information and homology extension. Nucleic Acids Res 39(suppl_2):W13\u2013W17","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"6097_CR13","first-page":"27","volume":"19","author":"M Dogan","year":"2017","unstructured":"Dogan M, Eroz R, Yuce H, Ozmerdivenli R (2017) The Known about Next-Generation Sequencing(NGS)(Review of the Literature). Duzce Med J 19(1):27\u201330","journal-title":"Duzce Med J"},{"issue":"6","key":"6097_CR14","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.1016\/j.str.2015.03.018","volume":"23","author":"C Dong","year":"2015","unstructured":"Dong C, Lin Z, Diao W, Li D, Chu X, Wang Z, Long J (2015) The Elp2 subunit is essential for Elongator complex assembly and functional regulation. Structure 23(6):1078\u20131086. https:\/\/doi.org\/10.1016\/j.str.2015.03.018","journal-title":"Structure"},{"key":"6097_CR15","unstructured":"Frappier, V. & Najmanovich, R.J. (2014) \"A Coarse-grained elastic network atom contact model and its use in the simulation of protein dynamics and the prediction of the effect of mutations\", PLoS Comput Biol, vol. 10, no. 4, pp. e1003569"},{"issue":"6","key":"6097_CR16","doi-asserted-by":"publisher","first-page":"273","DOI":"10.4161\/trns.21525","volume":"3","author":"S Glatt","year":"2012","unstructured":"Glatt S, S\u00e9raphin B, M\u00fcller CW (2012) Elongator: transcriptional or translational regulator? Transcription 3(6):273\u2013276","journal-title":"Transcription"},{"issue":"3","key":"6097_CR17","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1093\/bioinformatics\/btt686","volume":"30","author":"Z G\u00f6rmez","year":"2014","unstructured":"G\u00f6rmez Z, Gungor BB, Sa\u011f\u0131ro\u011flu MS (2014) HomSI: a homozygous stretch identifier from next-generation sequencing data. Bioinformatics 30(3):445\u2013447. https:\/\/doi.org\/10.1093\/bioinformatics\/btt686","journal-title":"Bioinformatics"},{"key":"6097_CR18","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1136\/jmg.33.3.212","volume":"33","author":"E Hoodfar","year":"1996","unstructured":"Hoodfar E, Teebi AS (1996) Genetic referrals of middle eastern origin in a western city: inbreeding and disease profile. J Med Genet 33:212\u2013215","journal-title":"J Med Genet"},{"issue":"11","key":"6097_CR19","doi-asserted-by":"publisher","first-page":"2197","DOI":"10.1016\/j.jmb.2019.04.009","volume":"431","author":"S Ittisoponpisan","year":"2019","unstructured":"Ittisoponpisan S, Islam SA, Khanna T, Alhuzimi E, David A, Sternberg MJE (2019) Can predicted protein 3D structures provide reliable insights into whether missense variants are disease associated? J Mol Biol 431(11):2197\u20132212","journal-title":"J Mol Biol"},{"issue":"1","key":"6097_CR20","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1186\/s12859-015-0548-6","volume":"16","author":"J Laimer","year":"2015","unstructured":"Laimer J, Hofer H, Fritz M, Wegenkittl S, Lackner P (2015) MAESTRO-multi agent stability prediction upon point mutations. BMC Bioinfo 16(1):116","journal-title":"BMC Bioinfo"},{"key":"6097_CR21","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1038\/nature10423","volume":"478","author":"H Najmabadi","year":"2011","unstructured":"Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M et al (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478:57\u201363. https:\/\/doi.org\/10.1038\/nature10423","journal-title":"Nature"},{"issue":"W1","key":"6097_CR22","doi-asserted-by":"publisher","first-page":"W229","DOI":"10.1093\/nar\/gkx439","volume":"45","author":"AP Pandurangan","year":"2017","unstructured":"Pandurangan AP, Ochoa-Monta\u00f1o B, Ascher DB, Blundell TL (2017) SDM: a server for predicting effects of mutations on protein stability. Nucleic Acids Res 45(W1):W229\u2013W235","journal-title":"Nucleic Acids Res"},{"issue":"3","key":"6097_CR23","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1093\/bioinformatics\/btt691","volume":"30","author":"DEV Pires","year":"2014","unstructured":"Pires DEV, Ascher DB, Blundell TL (2014a) mCSM: predicting the effects of mutations in proteins using graph-based signatures. Bioinformatics (Oxford, England) 30(3):335\u2013342","journal-title":"Bioinformatics (Oxford, England)"},{"key":"6097_CR24","doi-asserted-by":"publisher","first-page":"W314","DOI":"10.1093\/nar\/gku411","volume":"42","author":"DEV Pires","year":"2014","unstructured":"Pires DEV, Ascher DB, Blundell TL (2014b) DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach. Nucleic Acids Res 42:W314\u2013W319","journal-title":"Nucleic Acids Res"},{"key":"6097_CR25","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"5","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier FJ, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) 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 5:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"issue":"W1","key":"6097_CR26","doi-asserted-by":"publisher","first-page":"W350","DOI":"10.1093\/nar\/gky300","volume":"46","author":"CH Rodrigues","year":"2018","unstructured":"Rodrigues CH, Pires DE, Ascher DB (2018) DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability. Nucleic Acids Res 46(W1):W350\u2013W355","journal-title":"Nucleic Acids Res"},{"key":"6097_CR27","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1086\/318810","volume":"68","author":"SA Slaugenhaupt","year":"2001","unstructured":"Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF (2001) Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 68:598\u2013605","journal-title":"Am J Hum Genet"},{"issue":"4","key":"6097_CR28","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1111\/dmcn.12262","volume":"56","author":"H Smithers-Sheedy","year":"2014","unstructured":"Smithers-Sheedy H, Badawi N, Blair E, Cans C, Himmelmann K, Kr\u00e4geloh-Mann I, McIntyre S, Slee J, Uldall P, Watson L, Wilson M (2014) What constitutes cerebral palsy in the twenty-first century? Dev Med Child Neurol 56(4):323\u2013328","journal-title":"Dev Med Child Neurol"},{"issue":"1","key":"6097_CR29","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1038\/gim.2017.76","volume":"20","author":"KA Strauss","year":"2018","unstructured":"Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR Puffenberger, E.G(2018) Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med 20(1):31\u201341. https:\/\/doi.org\/10.1038\/gim.2017.76","journal-title":"Genet Med"},{"key":"6097_CR30","doi-asserted-by":"publisher","first-page":"1171","DOI":"10.1038\/ejhg.2008.267","volume":"17","author":"LJ Strug","year":"2009","unstructured":"Strug LJ, Clarke T, Chiang T, Chien M, Baskurt Z, Li W, Dorfman R, Bali B, Wirrell E, Kugler SL, Mandelbaum DE, Wolf SM, McGoldrick P, Hardison H, Novotny EJ, Ju J, Greenberg DA, Russo JJ, Pal DK (2009) Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator protein complex 4 (ELP4). Eur J Hum Genet 17:1171\u20131181. https:\/\/doi.org\/10.1038\/ejhg.2008.267","journal-title":"Eur J Hum Genet"},{"issue":"D1","key":"6097_CR31","doi-asserted-by":"publisher","first-page":"D506","DOI":"10.1093\/nar\/gky1049","volume":"47","author":"The UniProt Consortium","year":"2019","unstructured":"The UniProt Consortium (2019) UniProt: a worldwide hub of protein knowledge. Nucleic Acids Res 47(D1):D506\u2013D515","journal-title":"Nucleic Acids Res"},{"issue":"W1","key":"6097_CR32","doi-asserted-by":"publisher","first-page":"W296","DOI":"10.1093\/nar\/gky427","volume":"46","author":"A Waterhouse","year":"2018","unstructured":"Waterhouse A, Bertoni M, Bienert S, Studer G, Tauriello G, Gumienny R, Heer FT, de Beer TA, Rempfer C, Bordoli L, Lepore R, Schwede T (2018) SWISS-MODEL: homology modelling of protein structures and complexes. Nucleic Acids Res 46(W1):W296\u2013W303","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"6097_CR33","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1111\/cge.12244","volume":"85","author":"MH Willemsen","year":"2013","unstructured":"Willemsen MH, Kleefstra T (2013) Making headway with genetic diagnostics of intellectual disabilities. Clin Genet 85(2):101\u2013110. https:\/\/doi.org\/10.1111\/cge.12244","journal-title":"Clin Genet"},{"key":"6097_CR34","unstructured":"World Health Organization, Geneva (1993) The ICD-10 classification of mental and behavioural disorders diagnostic criteria for research (10th revision)"},{"key":"6097_CR35","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/j.neuron.2010.10.015","volume":"68","author":"HY Zoghbi","year":"2010","unstructured":"Zoghbi HY, Warren ST (2010) Neurogenetics: advancing the \u2018next-generation\u2019 of brain research. Neuron 68:165\u2013173. https:\/\/doi.org\/10.1016\/j.neuron.2010.10.015","journal-title":"Neuron"}],"container-title":["Molecular Biology Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-020-06097-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11033-020-06097-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-020-06097-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,18]],"date-time":"2021-02-18T22:16:59Z","timestamp":1613686619000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11033-020-06097-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["6097"],"URL":"https:\/\/doi.org\/10.1007\/s11033-020-06097-9","relation":{},"ISSN":["0301-4851","1573-4978"],"issn-type":[{"value":"0301-4851","type":"print"},{"value":"1573-4978","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1]]},"assertion":[{"value":"11 October 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 December 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 January 2021","order":3,"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":"None declared.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was conducted in accordance with the Declaration of Helsinki, and the protocol was approved by Malatya Clinical Research Ethics Committee (Research Project Application No. 23536505-000-17101). Individual informed consents for medical examinations, genomic analyses and case presentations were obtained from the parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}