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dc.contributor.authorBenítez-Burraco, Antonio
dc.contributor.authorBarcos-Martínez, Montserrat
dc.contributor.authorEspejo-Portero, Isabel
dc.contributor.authorFernández-Urquiza, Maite
dc.contributor.authorTorres-Ruiz Raul, Raúl 
dc.contributor.authorRodriguez Perales, Sandra 
dc.contributor.authorJiménez-Romero, Ma Salud
dc.date.accessioned2019-09-26T09:12:10Z
dc.date.available2019-09-26T09:12:10Z
dc.date.issued2018-06-05
dc.identifier.citationFront Pediatr. 2018 5;6:163.es_ES
dc.identifier.issn2296-2360es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/8382
dc.description.abstractThe chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21.1q21.2(145,764,455-147,824,207) × 3), and who exhibits cognitive delay and behavioral disturbances. Language is significantly perturbed, being the expressive domain the most impaired area (with significant dysphemic features in absence of pure motor speech deficits), although language comprehension and use (pragmatics) are also affected. Among the genes found duplicated in the child, CDH1L is upregulated in the blood of the proband. ROBO1, a candidate for dyslexia, is also highly upregulated, whereas, TLE3, a target of FOXP2, is significantly downregulated. These changes might explain language, and particularly speech dysfunction in the proband.es_ES
dc.description.sponsorshipWe would like to thank the proband and his family for their participation in this research. Preparation of this work was supported by funds from the Spanish Ministry of Economy and Competitiveness (grant number FFI2016-78034-C2-2-P [AEI/FEDER,UE] to AB-B, with MJ-R, MB-M, and IE-P as members of the project).es_ES
dc.language.isoenges_ES
dc.publisherFrontiers Media es_ES
dc.relation.isversionofPublisher's versiones_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectCDH1Les_ES
dc.subjectROBO1es_ES
dc.subjectChromosome 1q21.1 duplication syndromees_ES
dc.subjectCognitive delayes_ES
dc.subjectLanguage deficitses_ES
dc.subjectSpeech problemses_ES
dc.titleNarrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndromees_ES
dc.typeArtículoes_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.pubmedID29922639es_ES
dc.format.volume6es_ES
dc.format.page163es_ES
dc.identifier.doi10.3389/fped.2018.00163es_ES
dc.contributor.funderMinisterio de Economía y Competitividad (España)
dc.description.peerreviewedes_ES
dc.relation.publisherversionhttps://doi.org/10.3389/fped.2018.00163.es_ES
dc.identifier.journalFrontiers in pediatricses_ES
dc.repisalud.institucionCNIOes_ES
dc.repisalud.orgCNIOCNIO::Unidades técnicas::Unidad de Citogenética Moleculares_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/FFI2016-78034-C2-2-Pes_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES


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Atribución-NoComercial-CompartirIgual 4.0 Internacional
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