{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T19:21:36Z","timestamp":1792264896569,"version":"4.4.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2013,10,9]],"date-time":"2013-10-09T00:00:00Z","timestamp":1381276800000},"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":[[2014,5]]},"DOI":"10.1038\/ejhg.2013.216","type":"journal-article","created":{"date-parts":[[2013,10,9]],"date-time":"2013-10-09T10:19:58Z","timestamp":1381313998000},"page":"644-651","source":"Crossref","is-referenced-by-count":30,"title":["A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations"],"prefix":"10.1038","volume":"22","author":[{"given":"C\u00edntia Barros","family":"Santos-Rebou\u00e7as","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Belet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciana","family":"Guedes de Almeida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rcia Gon\u00e7alves","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Medina-Acosta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo Roberto Valle","family":"Bahia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f4nio Francisco","family":"Alves da Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fl\u00e1via","family":"Lima dos Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenda Corr\u00eaa","family":"Borges de Lacerda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rcia Mattos Gon\u00e7alves","family":"Pimentel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Froyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,10,9]]},"reference":[{"key":"BFejhg2013216_CR1","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1352\/0895-8017(2001)106<0231:POMRAD>2.0.CO;2","volume":"106","author":"SA Larson","year":"2001","unstructured":"Larson SA, Lakin KC, Anderson L, Kwak N, Lee JH, Anderson D : Prevalence of mental retardation and developmental disabilities: estimates from the 1994\/1995 National Health Interview Survey Disability Supplements. Am J Ment Retard 2001; 106: 231\u2013252.","journal-title":"Am J Ment Retard"},{"key":"BFejhg2013216_CR2","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.pneurobio.2011.04.011","volume":"94","author":"KF Tolias","year":"2011","unstructured":"Tolias KF, Duman JG, Um K : Control of synapse development and plasticity by Rho GTPase regulatory proteins. Prog Neurobiol 2011; 94: 133\u2013148.","journal-title":"Prog Neurobiol"},{"key":"BFejhg2013216_CR3","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1159\/000484743","volume":"5","author":"T Bienvenu","year":"1997","unstructured":"Bienvenu T, Der-Sarkissian H, Billuart P et al: Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation. Eur J Hum Genet 1997; 5: 105\u2013109.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2013216_CR4","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1038\/31940","volume":"392","author":"P Billuart","year":"1998","unstructured":"Billuart P, Bienvenu T, Ronce N et al: Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 1998; 392: 923\u2013926.","journal-title":"Nature"},{"key":"BFejhg2013216_CR5","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1111\/j.1399-0004.2010.01462.x","volume":"79","author":"M Al-Owain","year":"2011","unstructured":"Al-Owain M, Kaya N, Al-Zaidan H et al: Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. Clin Genet 2011; 79: 363\u2013370.","journal-title":"Clin Genet"},{"key":"BFejhg2013216_CR6","doi-asserted-by":"publisher","first-page":"E2294","DOI":"10.1002\/humu.21567","volume":"32","author":"F Pirozzi","year":"2011","unstructured":"Pirozzi F, Di Raimo FR, Zanni G et al: Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family. Hum Mutat 2011; 32: E2294\u2013E2307.","journal-title":"Hum Mutat"},{"key":"BFejhg2013216_CR7","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1016\/S1044-7431(03)00078-2","volume":"23","author":"F Fauchereau","year":"2003","unstructured":"Fauchereau F, Herbrand U, Chafey P et al: The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain. Mol Cell Neurosci 2003; 23: 574\u2013586.","journal-title":"Mol Cell Neurosci"},{"key":"BFejhg2013216_CR8","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1038\/nn1210","volume":"7","author":"EE Govek","year":"2004","unstructured":"Govek EE, Newey SE, Akerman CJ, Cross JR, Van der Veken L, Van Aelst L : The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis. Nat Neurosci 2004; 7: 364\u2013372.","journal-title":"Nat Neurosci"},{"key":"BFejhg2013216_CR9","doi-asserted-by":"publisher","first-page":"9439","DOI":"10.1523\/JNEUROSCI.2029-07.2007","volume":"27","author":"M Khelfaoui","year":"2007","unstructured":"Khelfaoui M, Denis C, van Galen E et al: Loss of X-linked mental retardation gene oligophrenin 1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity. J Neurosci 2007; 27: 9439\u20139450.","journal-title":"J Neurosci"},{"key":"BFejhg2013216_CR10","doi-asserted-by":"publisher","first-page":"1289","DOI":"10.1101\/gad.1783809","volume":"23","author":"NN Kasri","year":"2009","unstructured":"Kasri NN, Nakano-Kobayashi A, Malinow R, Li B, Van Aelst L : The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors. Genes Dev 2009; 23: 1289\u20131302.","journal-title":"Genes Dev"},{"key":"BFejhg2013216_CR11","doi-asserted-by":"publisher","first-page":"2575","DOI":"10.1093\/hmg\/ddp189","volume":"18","author":"M Khelfaoui","year":"2009","unstructured":"Khelfaoui M, Pavlowsky A, Powell AD et al: Inhibition of RhoA pathway rescues the endocytosis defects in oligophrenin 1 mouse model of mental retardation. Hum Mol Genet 2009; 18: 2575\u20132583.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2013216_CR12","first-page":"385","volume":"12","author":"CB Santos","year":"2003","unstructured":"Santos CB, Pimentel MMG : The influence of expanded unmethylated alleles for FRAXA\/FRAXE loci in the intellectual performance among Brazilian mentally impaired males. Int J Mol Med 2003; 12: 385\u2013389.","journal-title":"Int J Mol Med"},{"key":"BFejhg2013216_CR13","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1016\/j.ajhg.2012.06.010","volume":"91","author":"G Froyen","year":"2012","unstructured":"Froyen G, Belet S, Martinez F et al: Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. Am J Hum Genet 2012; 91: 252\u2013264.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2013216_CR14","doi-asserted-by":"publisher","first-page":"3472","DOI":"10.1182\/blood-2008-12-195677","volume":"113","author":"L Busque","year":"2009","unstructured":"Busque L, Paquette Y, Provost S et al: Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies. Blood 2009; 113: 3472\u20133474.","journal-title":"Blood"},{"key":"BFejhg2013216_CR15","first-page":"368","volume":"41","author":"A Araujo","year":"2008","unstructured":"Araujo A, Ramos ES : Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome. Braz J Med Biol Res 2008; 41: 368\u2013372.","journal-title":"Braz J Med Biol Res"},{"key":"BFejhg2013216_CR16","doi-asserted-by":"publisher","first-page":"45","DOI":"10.4161\/sgtp.18960","volume":"3","author":"BJ de Kreuk","year":"2012","unstructured":"de Kreuk BJ, Hordijk PL : Control of Rho GTPase function by BAR-domains. Small GTPases 2012; 3: 45\u201352.","journal-title":"Small GTPases"},{"key":"BFejhg2013216_CR17","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1016\/j.cub.2009.05.022","volume":"19","author":"A Nakano-Kobayashi","year":"2009","unstructured":"Nakano-Kobayashi A, Kasri NN, Newey SE, Van Aelst L : The Rho-linked mental retardation protein OPHN1 controls synaptic vesicle endocytosis via endophilin A1. Curr Biol 2009; 19: 1133\u20131139.","journal-title":"Curr Biol"},{"key":"BFejhg2013216_CR18","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1093\/cvr\/cvs079","volume":"94","author":"M Elvers","year":"2012","unstructured":"Elvers M, Beck S, Fotinos A, Ziegler M, Gawaz M : The GRAF family member oligophrenin1 is a RhoGAP with BAR domain and regulates Rho GTPases in platelets. Cardiovasc Res 2012; 94: 526\u2013536.","journal-title":"Cardiovasc Res"},{"key":"BFejhg2013216_CR19","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1042\/BJ20081535","volume":"417","author":"A Eberth","year":"2009","unstructured":"Eberth A, Lundmark R, Gremer L et al: A BAR domain mediated autoinhibitory mechanism for RhoGAPs of the GRAF family. Biochem J 2009; 417: 371\u2013377.","journal-title":"Biochem J"},{"key":"BFejhg2013216_CR20","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1101\/gr.075903.107","volume":"18","author":"M Bauters","year":"2008","unstructured":"Bauters M, Van Esch H, Friez MJ et al: Nonrecurrent MECP2 duplications mediated by genomic architecture driven DNA breaks and break-induced replication repair. Genome Res 2008; 18: 847\u2013858.","journal-title":"Genome Res"},{"key":"BFejhg2013216_CR21","doi-asserted-by":"publisher","first-page":"e1000327","DOI":"10.1371\/journal.pgen.1000327","volume":"5","author":"PJ Hastings","year":"2009","unstructured":"Hastings PJ, Ira G, Lupski JR : A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 2009; 5: e1000327.","journal-title":"PLoS Genet"},{"key":"BFejhg2013216_CR22","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1038\/sj.ejhg.5200320","volume":"7","author":"D Tentler","year":"1999","unstructured":"Tentler D, Gustavsson P, Leisti J et al: Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. Eur J Hum Genet 1999; 7: 541\u2013548.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2013216_CR23","doi-asserted-by":"publisher","first-page":"1537","DOI":"10.1093\/brain\/awg173","volume":"126","author":"C Bergmann","year":"2003","unstructured":"Bergmann C, Zerres K, Senderek J et al: Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain 2003; 126: 1537\u20131544.","journal-title":"Brain"},{"key":"BFejhg2013216_CR24","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1136\/jmg.40.6.441","volume":"40","author":"N Philip","year":"2003","unstructured":"Philip N, Chabrol B, Lossi AM et al: Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet 2003; 40: 441\u2013446.","journal-title":"J Med Genet"},{"key":"BFejhg2013216_CR25","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1002\/ajmg.a.30882","volume":"138A","author":"B Chabrol","year":"2005","unstructured":"Chabrol B, Girard N, N'Guyen K et al: Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families. Am J Med Genet 2005; 138A: 314\u2013317.","journal-title":"Am J Med Genet"},{"key":"BFejhg2013216_CR26","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1212\/01.wnl.0000182813.94713.ee","volume":"65","author":"G Zanni","year":"2005","unstructured":"Zanni G, Saillour Y, Nagara M et al: Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology 2005; 65: 1364\u20131369.","journal-title":"Neurology"},{"key":"BFejhg2013216_CR27","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1016\/j.ejmg.2007.07.003","volume":"50","author":"B Menten","year":"2007","unstructured":"Menten B, Buysse K, Vermeulen S et al: Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12. Eur J Med Genet 2007; 50: 446\u2013454.","journal-title":"Eur J Med Genet"},{"key":"BFejhg2013216_CR28","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1002\/humu.20564","volume":"28","author":"G Froyen","year":"2007","unstructured":"Froyen G, Van Esch H, Bauters M et al: Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat 2007; 28: 1034\u20131042.","journal-title":"Hum Mutat"},{"key":"BFejhg2013216_CR29","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1111\/j.1365-2788.2007.00997.x","volume":"52","author":"I Madrigal","year":"2008","unstructured":"Madrigal I, Rodr\u00edguez-Revenga L, Badenas C, S\u00e1nchez A, Mil\u00e0 M : Deletion of the OPHN1 gene detected by aCGH. J Intellect Disabil Res 2008; 52: 190\u2013194.","journal-title":"J Intellect Disabil Res"},{"key":"BFejhg2013216_CR30","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1046\/j.1528-1157.2001.40600.x","volume":"42","author":"O St\u00fcve","year":"2001","unstructured":"St\u00fcve O, Dodrill CB, Holmes MD, Miller JW : The absence of interictal spikes with documented seizures suggests extratemporal epilepsy. Epilepsia 2001; 42: 778\u2013781.","journal-title":"Epilepsia"},{"key":"BFejhg2013216_CR31","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1093\/brain\/91.4.751","volume":"91","author":"L Zivin","year":"1968","unstructured":"Zivin L, Marsan CA : Incidence and prognostic significance of \u2018epileptiform\u2019 activity in the EEG of non-epileptic subjects. Brain 1968; 91: 751\u2013778.","journal-title":"Brain"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013216.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013216","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013216.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:09:30Z","timestamp":1684429770000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2013216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,9]]},"references-count":31,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["BFejhg2013216"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2013.216","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,9]]}}}