{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T01:11:08Z","timestamp":1793236268142,"version":"4.5.0"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,6,20]],"date-time":"2012-06-20T00:00:00Z","timestamp":1340150400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1038\/ejhg.2012.116","type":"journal-article","created":{"date-parts":[[2012,6,20]],"date-time":"2012-06-20T10:41:34Z","timestamp":1340188894000},"page":"82-88","source":"Crossref","is-referenced-by-count":66,"title":["12p13.33 microdeletion including ELKS\/ERC1, a new locus associated with childhood apraxia of speech"],"prefix":"10.1038","volume":"21","author":[{"given":"Julien","family":"Thevenon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Callier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris","family":"Andrieux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Delobel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Sukno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Minot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Mosca Anne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Marle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Bonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Masurel-Paulet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Levy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorraine","family":"Gaunt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Farrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9dric","family":"Le Caignec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Carmignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francine","family":"Mugneret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Thauvin-Robinet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,6,20]]},"reference":[{"key":"BFejhg2012116_CR1","doi-asserted-by":"publisher","first-page":"1245","DOI":"10.1044\/jslhr.4006.1245","volume":"40","author":"JB Tomblin","year":"1997","unstructured":"Tomblin JB, Records NL, Buckwalter P, Zhang X, Smith E, O\u2019Brien M : Prevalence of specific language impairment in kindergarten children. J Speech Lang Hear Res 1997; 40: 1245\u20131260.","journal-title":"J Speech Lang Hear Res"},{"key":"BFejhg2012116_CR2","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1016\/j.tics.2005.09.002","volume":"9","author":"DF Newbury","year":"2005","unstructured":"Newbury DF, Bishop DV, Monaco AP : Genetic influences on language impairment and phonological short-term memory. Trends Cogn Sci 2005; 9: 528\u2013534.","journal-title":"Trends Cogn Sci"},{"key":"BFejhg2012116_CR3","doi-asserted-by":"crossref","unstructured":"Kang C, Drayna D : Annu Rev Genomics Hum Genet 2011; 12: 5.1\u20135.20.","DOI":"10.1146\/annurev-genom-090810-183119"},{"key":"BFejhg2012116_CR4","unstructured":"ASHA, American Speech-Language and Hearing Association: Childhood apraxia of speech (technical report). Rockville, MD: ASHA, 2007, p 1\u201374."},{"key":"BFejhg2012116_CR5","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1038\/35097076","volume":"413","author":"CS Lai","year":"2001","unstructured":"Lai CS, Fisher SE, Hurst JA, Vargha-Khadem F, Monaco AP : A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 2001; 413: 519\u2013523.","journal-title":"Nature"},{"key":"BFejhg2012116_CR6","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1086\/430841","volume":"76","author":"KD MacDermot","year":"2005","unstructured":"MacDermot KD, Bonora E, Sykes N et al. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet 2005; 76: 1074\u20131080.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012116_CR7","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1086\/508902","volume":"79","author":"L Feuk","year":"2006","unstructured":"Feuk L, Kalervo A, Lipsanen-Nyman M et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet 2006; 79: 965\u2013972.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012116_CR8","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1044\/1092-4388(2006\/038)","volume":"49","author":"LD Shriberg","year":"2006","unstructured":"Shriberg LD, Ballard KJ, Tomblin JB, Duffy JR, Odell KH, Williams CA : Speech prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. J Speech Lang Hear Res 2006; 49: 500\u2013525.","journal-title":"J Speech Lang Hear Res"},{"key":"BFejhg2012116_CR9","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1002\/ajmg.a.31110","volume":"140","author":"S Zeesman","year":"2006","unstructured":"Zeesman S, Nowaczyk MJ, Teshima I et al. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A 2006; 140: 509\u2013514.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2012116_CR10","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.tig.2009.03.002","volume":"25","author":"SE Fisher","year":"2009","unstructured":"Fisher SE, Scharff C : FOXP2 as a molecular window into speech and language. Trends Genet 2009; 25: 166\u2013177.","journal-title":"Trends Genet"},{"key":"BFejhg2012116_CR11","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1038\/nrn1605","volume":"6","author":"F Vargha-Khadem","year":"2005","unstructured":"Vargha-Khadem F, Gadian DG, Copp A, Mishkin M : FOXP2 and the neuro anatomy of speech and language. Nat Rev Neurosci 2005; 6: 131\u2013138.","journal-title":"Nat Rev Neurosci"},{"key":"BFejhg2012116_CR12","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1111\/j.1469-7610.2005.01584.x","volume":"47","author":"G Conti-Ramsden","year":"2006","unstructured":"Conti-Ramsden G, Simkin Z, Botting N : The prevalence of autistic spectrum disorders in adolescents with a history of specific language impairment (SLI). J Child Psychol Psychiatry 2006; 47: 621\u2013628.","journal-title":"J Child Psychol Psychiatry"},{"key":"BFejhg2012116_CR13","doi-asserted-by":"publisher","first-page":"2337","DOI":"10.1056\/NEJMoa0802828","volume":"359","author":"SC Vernes","year":"2008","unstructured":"Vernes SC, Newbury DF, Abrahams BS et al2008 A functional genetic link between distinct developmental language disorders. N Engl J Med 359: 2337\u20132345.","journal-title":"N Engl J Med"},{"key":"BFejhg2012116_CR14","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1038\/ng.835","volume":"43","author":"BJ O'Roak","year":"2011","unstructured":"O'Roak BJ, Deriziotis P, Lee C et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011; 43: 585\u2013589.","journal-title":"Nat Genet"},{"key":"BFejhg2012116_CR15","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/j.ejmg.2009.03.012","volume":"52","author":"MJ Pariani","year":"2009","unstructured":"Pariani MJ, Spencer A, Graham JM, Rimoin DL : A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. Eur J Med Genet 2009; 52: 123\u2013127.","journal-title":"Eur J Med Genet"},{"key":"BFejhg2012116_CR16","doi-asserted-by":"publisher","first-page":"1216","DOI":"10.1038\/ejhg.2010.96","volume":"18","author":"CW Carr","year":"2010","unstructured":"Carr CW, Moreno-De-Luca D, Parker C et al. Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. Eur J Hum Genet 2010; 18: 1216\u20131220.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2012116_CR17","doi-asserted-by":"publisher","first-page":"1195","DOI":"10.1093\/hmg\/ddl035","volume":"15","author":"P Roll","year":"2006","unstructured":"Roll P, Rudolf G, Pereira S et al. SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 2006; 15: 1195\u20131207.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2012116_CR18","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1111\/j.1399-0004.2010.01374.x","volume":"78","author":"A Masurel-Paulet","year":"2010","unstructured":"Masurel-Paulet A, Andrieux J, Callier P et al. Delineation of 15q13.3 microdeletions. Clin Genet 2010; 78: 149\u2013161.","journal-title":"Clin Genet"},{"key":"BFejhg2012116_CR19","unstructured":"BALE, Bilan Analytique du Langage Ecrit, Jacquier-Roux and colleagues: Laboratoire Cognisciences et Apprentissages. Grenoble, France: IUFM-Grenoble, 1999."},{"key":"BFejhg2012116_CR20","unstructured":"ELO (Examen du Langage Oral): Khomsi A. Paris: ECPA, 2001."},{"key":"BFejhg2012116_CR21","doi-asserted-by":"publisher","first-page":"1082","DOI":"10.1016\/S0929-693X(99)80004-9","volume":"5","author":"F Alla","year":"1998","unstructured":"Alla F, Guillemin F, Colombo MC, Roy B, Maeder C : Diagnostic value of ERTL4: a screening test of language disorders in 4-year-old children. Arch Pediatr 1998; 5: 1082\u20131088.","journal-title":"Arch Pediatr"},{"key":"BFejhg2012116_CR22","first-page":"809","volume":"15","author":"N H\u00e9nin","year":"1980","unstructured":"H\u00e9nin N : H\u00e9nin-Dulac test. Les cahiers d\u2019ORL 1980; 15: 809\u2013851.","journal-title":"Les cahiers d\u2019ORL"},{"key":"BFejhg2012116_CR23","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1044\/1058-0360(2003\/083)","volume":"12","author":"K Forrest","year":"2003","unstructured":"Forrest K : Diagnostic criteria of developmental apraxia of speech used by clinical speech-language pathologists. Am J Speech Lang Pathol 2003; 12: 376\u2013380.","journal-title":"Am J Speech Lang Pathol"},{"key":"BFejhg2012116_CR24","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1136\/jmg.2005.036350","volume":"43","author":"JB Ravnan","year":"2006","unstructured":"Ravnan JB, Tepperberg JH, Papenhausen P et al. Subtelomere FISH analysis of 11\u2009688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006; 43: 478\u2013489.","journal-title":"J Med Genet"},{"key":"BFejhg2012116_CR25","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1034\/j.1399-0004.2002.610305.x","volume":"61","author":"E Baker","year":"2002","unstructured":"Baker E, Hinton L, Callen DF, Haan EA, Dobbie A, Sutherland GR : A familial cryptic subtelomeric deletion 12p with variable phenotypic effect. Clin Genet 2002; 61: 198\u2013201.","journal-title":"Clin Genet"},{"key":"BFejhg2012116_CR26","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1016\/j.ejmg.2009.08.005","volume":"52","author":"C Rooryck","year":"2009","unstructured":"Rooryck C, Stef M, Burgelin I et al. 2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene. Eur J Med Genet 2009; 52: 446\u2013449.","journal-title":"Eur J Med Genet"},{"key":"BFejhg2012116_CR27","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1002\/ajmg.a.33401","volume":"152","author":"AH MacDonald","year":"2010","unstructured":"MacDonald AH, Rodr\u00edguez L, Ace\u00f1a I et al. Subtelomeric deletion of 12p: description of a third case and review. Am J Med Genet A 2010; 152: 1561\u20131566.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2012116_CR28","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1016\/j.ejmg.2010.11.010","volume":"54","author":"AT Abdelmoity","year":"2011","unstructured":"Abdelmoity AT, Hall JJ, Bittel DC et al. 1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay. Eur J Med Genet 2011; 54: 198\u2013203.","journal-title":"Eur J Med Genet"},{"key":"BFejhg2012116_CR29","first-page":"335","volume":"28","author":"E Orye","year":"1975","unstructured":"Orye E, Craen M : Short arm deletion of chromosome 12: report of two new cases. Humangenetik 1975; 28: 335\u2013342.","journal-title":"Humangenetik"},{"key":"BFejhg2012116_CR30","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1002\/ajmg.1320220412","volume":"22","author":"JD Kivlin","year":"1985","unstructured":"Kivlin JD, Fineman RM, Williams MS : Phenotypic variation in the del(12p) syndrome. Am J Med Genet 1985; 22: 769\u2013779.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012116_CR31","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1136\/jmg.24.7.434","volume":"24","author":"DR Romain","year":"1987","unstructured":"Romain DR, Goldsmith J, Columbano-Green LM, Chapman CJ, Smythe RH, Parfitt RG : Partial monosomy 12p13.1----13.3. J Med Genet 1987; 24: 434\u2013436.","journal-title":"J Med Genet"},{"key":"BFejhg2012116_CR32","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1002\/ajmg.1320360324","volume":"36","author":"A Baroncini","year":"1990","unstructured":"Baroncini A, Avellini C, Neri C, Forabosco A : Distal 12p deletion in a stillborn infant. Am J Med Genet 1990; 36: 358\u2013360.","journal-title":"Am J Med Genet"},{"key":"BFejhg2012116_CR33","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1002\/humu.20537","volume":"28","author":"I Balikova","year":"2007","unstructured":"Balikova I, Menten B, de Ravel T et al. Subtelomeric imbalances in phenotypically normal individuals. Hum Mutat 2007; 28: 958\u2013967.","journal-title":"Hum Mutat"},{"key":"BFejhg2012116_CR34","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1111\/j.1471-4159.2010.07167.x","volume":"116","author":"M Fukaya","year":"2011","unstructured":"Fukaya M, Kamata A, Hara Y et al. SynArfGEF is a guanine nucleotide exchange factor for Arf6 and localizes preferentially at post-synaptic specializations of inhibitory synapses. J Neurochem 2011; 116: 1122\u20131137.","journal-title":"J Neurochem"},{"key":"BFejhg2012116_CR35","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1093\/jb\/mvq065","volume":"148","author":"Y Hida","year":"2010","unstructured":"Hida Y, Ohtsuka T : CAST and ELKS proteins: structural and functional determinants of the presynaptic active zone. J Biochem 2010; 148: 131\u2013137.","journal-title":"J Biochem"},{"key":"BFejhg2012116_CR36","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/j.jpsychires.2010.03.007","volume":"44","author":"E Saus","year":"2010","unstructured":"Saus E, Brunet A, Armengol L et al. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. J Psychiatr Res 2010; 44: 971\u2013978.","journal-title":"J Psychiatr Res"},{"key":"BFejhg2012116_CR37","doi-asserted-by":"publisher","first-page":"1016","DOI":"10.1038\/mp.2009.49","volume":"15","author":"EK Green","year":"2010","unstructured":"Green EK, Grozeva D, Jones I et al. The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia. Mol Psychiatry 2010; 15: 1016\u20131022.","journal-title":"Mol Psychiatry"},{"key":"BFejhg2012116_CR38","doi-asserted-by":"publisher","first-page":"3289","DOI":"10.1091\/mbc.e04-09-0816","volume":"16","author":"M Ohara-Imaizumi","year":"2005","unstructured":"Ohara-Imaizumi M, Ohtsuka T, Matsushima S et al. ELKS, a protein structurally related to the active zone-associated protein CAST, is expressed in pancreatic beta cells and functions in insulin exocytosis: interaction of ELKS with exocytotic machinery analyzed by total internal reflection fluorescence microscopy. Mol Biol Cell 2005; 16: 3289\u20133300.","journal-title":"Mol Biol Cell"},{"key":"BFejhg2012116_CR39","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1016\/j.cub.2011.04.030","volume":"21","author":"I Grigoriev","year":"2011","unstructured":"Grigoriev I, Yu KL, Martinez-Sanchez E et al. Rab6, Rab8, and MICAL3 cooperate in controlling docking and fusion of exocytotic carriers. Curr Biol 2011; 21: 967\u2013974.","journal-title":"Curr Biol"},{"key":"BFejhg2012116_CR40","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1007\/s10803-010-1117-5","volume":"41","author":"LD Shriberg","year":"2011","unstructured":"Shriberg LD, Paul R, Black LM, Van Santen JP : The hypothesis of apraxia of speech in children with autism spectrum disorder. J Autism Dev Disord 2011; 41: 405\u2013426.","journal-title":"J Autism Dev Disord"},{"key":"BFejhg2012116_CR41","doi-asserted-by":"publisher","first-page":"e15112","DOI":"10.1371\/journal.pone.0015112","volume":"5","author":"DV Bishop","year":"2010","unstructured":"Bishop DV : Which neurodevelopmental disorders get researched and why? PLoS One 2010; 5: e15112.","journal-title":"PLoS One"},{"key":"BFejhg2012116_CR42","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1542\/peds.2010-2094","volume":"129","author":"C Palka","year":"2012","unstructured":"Palka C, Alfonsi M, Mohn A et al. Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. Pediatrics 2012; 129: 183\u2013188.","journal-title":"Pediatrics"},{"key":"BFejhg2012116_CR43","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.ajhg.2010.09.017","volume":"87","author":"FF Hamdan","year":"2010","unstructured":"Hamdan FF, Daoud H, Rochefort D et al. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet 2010; 87: 671\u2013678.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012116_CR44","volume-title":"Gene Reviews","author":"I Splawski","year":"1993","unstructured":"Splawski I, Timothy KW, Priori SG, Napolitano C, Bloise R : Gene Reviews. Seattle: University of Washington, 1993\u20132006."},{"key":"BFejhg2012116_CR45","first-page":"1","volume":"16","author":"M Thimm","year":"2010","unstructured":"Thimm M, Kircher T, Kellermann T et al. Effects of a CACNA1C genotype on attention networks in healthy individuals. Psychol Med 2010; 16: 1\u201311.","journal-title":"Psychol Med"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012116.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012116","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012116.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T23:19:04Z","timestamp":1714087144000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2012116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,20]]},"references-count":45,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["BFejhg2012116"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2012.116","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,20]]}}}