{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:37:02Z","timestamp":1760985422930,"version":"3.37.3"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2016,3,2]],"date-time":"2016-03-02T00:00:00Z","timestamp":1456876800000},"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":[[2016,9]]},"DOI":"10.1038\/ejhg.2016.20","type":"journal-article","created":{"date-parts":[[2016,3,2]],"date-time":"2016-03-02T11:38:54Z","timestamp":1456918734000},"page":"1371-1374","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A polymorphic Alu insertion that mediates distinct disease-associated deletions"],"prefix":"10.1038","volume":"24","author":[{"given":"Amir","family":"Jahic","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne K","family":"Erichsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4839-3117","authenticated-orcid":false,"given":"Thomas","family":"Deufel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal M","family":"Tallaksen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Beetz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,3,2]]},"reference":[{"key":"BFejhg201620_CR1","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1038\/nrg2593","volume":"10","author":"PJ Hastings","year":"2009","unstructured":"Hastings PJ, Lupski JR, Rosenberg SM, Ira G : Mechanisms of change in gene copy number. Nat Rev Genet 2009; 10: 551\u2013564.","journal-title":"Nat Rev Genet"},{"key":"BFejhg201620_CR2","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/S0092-8674(02)00828-0","volume":"110","author":"N Gilbert","year":"2002","unstructured":"Gilbert N, Lutz-Prigge S, Moran JV : Genomic deletions created upon LINE-1 retrotransposition. Cell 2002; 110: 315\u2013325.","journal-title":"Cell"},{"key":"BFejhg201620_CR3","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/S0092-8674(02)00839-5","volume":"110","author":"DE Symer","year":"2002","unstructured":"Symer DE, Connelly C, Szak ST et al: Human l1 retrotransposition is associated with genetic instability in vivo. Cell 2002; 110: 327\u2013338.","journal-title":"Cell"},{"key":"BFejhg201620_CR4","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1016\/j.jmb.2005.02.043","volume":"348","author":"PA Callinan","year":"2005","unstructured":"Callinan PA, Wang J, Herke SW, Garber RK, Liang P, Batzer MA : Alu retrotransposition-mediated deletion. J Mol Biol 2005; 348: 791\u2013800.","journal-title":"J Mol Biol"},{"key":"BFejhg201620_CR5","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1016\/j.ymgme.2007.06.018","volume":"92","author":"M Okubo","year":"2007","unstructured":"Okubo M, Horinishi A, Saito M et al: A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency. Mol Gen Metabol 2007; 92: 229\u2013233.","journal-title":"Mol Gen Metabol"},{"key":"BFejhg201620_CR6","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1002\/ajmg.a.31441","volume":"143A","author":"T Udaka","year":"2007","unstructured":"Udaka T, Okamoto N, Aramaki M et al: An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. Amer J Med Gen A 2007; 143A: 721\u2013726.","journal-title":"Amer J Med Gen A"},{"key":"BFejhg201620_CR7","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.ymgme.2007.01.003","volume":"90","author":"E Schollen","year":"2007","unstructured":"Schollen E, Keldermans L, Foulquier F et al: Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Gen Metabol 2007; 90: 408\u2013413.","journal-title":"Mol Gen Metabol"},{"key":"BFejhg201620_CR8","doi-asserted-by":"publisher","first-page":"688","DOI":"10.1002\/humu.21474","volume":"32","author":"R Dobrovolny","year":"2011","unstructured":"Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick RJ : Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel alpha-galactosidase A (GLA) deletions causing Fabry disease. Hum Mut 2011; 32: 688\u2013695.","journal-title":"Hum Mut"},{"key":"BFejhg201620_CR9","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1038\/jhg.2012.137","volume":"58","author":"A Peixoto","year":"2013","unstructured":"Peixoto A, Pinheiro M, Massena L et al: Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene. J Hum Genet 2013; 58: 78\u201383.","journal-title":"J Hum Genet"},{"key":"BFejhg201620_CR10","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1016\/j.ajhg.2015.06.002","volume":"97","author":"MC Hsiao","year":"2015","unstructured":"Hsiao MC, Piotrowski A, Callens T et al: Decoding NF1 Intragenic Copy-Number Variations. AJHG 2015; 97: 238\u2013249.","journal-title":"AJHG"},{"key":"BFejhg201620_CR11","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1038\/15472","volume":"23","author":"J Hazan","year":"1999","unstructured":"Hazan J, Fonknechten N, Mavel D et al: Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999; 23: 296\u2013303.","journal-title":"Nat Genet"},{"key":"BFejhg201620_CR12","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1002\/humu.10105","volume":"20","author":"S Sauter","year":"2002","unstructured":"Sauter S, Miterski B, Klimpe S et al: Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mut 2002; 20: 127\u2013132.","journal-title":"Hum Mut"},{"key":"BFejhg201620_CR13","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1111\/j.1468-1331.2007.01861.x","volume":"14","author":"AK Erichsen","year":"2007","unstructured":"Erichsen AK, Inderhaug E, Mattingsdal M, Eiklid K, Tallaksen CM : Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. Eur J Neurol 2007; 14: 809\u2013814.","journal-title":"Eur J Neurol"},{"key":"BFejhg201620_CR14","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1038\/nrg798","volume":"3","author":"MA Batzer","year":"2002","unstructured":"Batzer MA, Deininger PL : Alu repeats and human genomic diversity. Nat Rev Genet 2002; 3: 370\u2013379.","journal-title":"Nat Rev Genet"},{"key":"BFejhg201620_CR15","doi-asserted-by":"publisher","first-page":"1516","DOI":"10.1101\/gr.091827.109","volume":"19","author":"J Xing","year":"2009","unstructured":"Xing J, Zhang Y, Han K et al: Mobile elements create structural variation: analysis of a complete human genome. Genome Res 2009; 19: 1516\u20131526.","journal-title":"Genome Res"},{"key":"BFejhg201620_CR16","doi-asserted-by":"publisher","first-page":"e1002236","DOI":"10.1371\/journal.pgen.1002236","volume":"7","author":"C Stewart","year":"2011","unstructured":"Stewart C, Kural D, Stromberg MP et al: A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Gen 2011; 7: e1002236.","journal-title":"PLoS Gen"},{"key":"BFejhg201620_CR17","doi-asserted-by":"publisher","first-page":"e169","DOI":"10.1093\/nar\/gkt612","volume":"41","author":"M David","year":"2013","unstructured":"David M, Mustafa H, Brudno M : Detecting Alu insertions from high-throughput sequencing data. NAR 2013; 41: e169.","journal-title":"NAR"},{"key":"BFejhg201620_CR18","doi-asserted-by":"publisher","first-page":"1926","DOI":"10.1212\/01.wnl.0000244413.49258.f5","volume":"67","author":"C Beetz","year":"2006","unstructured":"Beetz C, Nygren AO, Schickel J et al: High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 2006; 67: 1926\u20131930.","journal-title":"Neurology"},{"key":"BFejhg201620_CR19","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.ajhg.2014.06.014","volume":"95","author":"PM Boone","year":"2014","unstructured":"Boone PM, Yuan B, Campbell IM et al: The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. AJHG 2014; 95: 143\u2013161.","journal-title":"AJHG"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg201620.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201620","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201620.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:17:10Z","timestamp":1684430230000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg201620"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,2]]},"references-count":19,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["BFejhg201620"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2016.20","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"type":"print","value":"1018-4813"},{"type":"electronic","value":"1476-5438"}],"subject":[],"published":{"date-parts":[[2016,3,2]]},"assertion":[{"value":"20 October 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 January 2016","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 February 2016","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 March 2016","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}