2026-06-14T03:31:01Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/83822024-11-29T17:25:52Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597

00925njm 22002777a 4500 dc Benítez-Burraco, Antonio author Barcos-Martínez, Montserrat author Espejo-Portero, Isabel author Fernández-Urquiza, Maite author Torres-Ruiz Raul, Raúl author Rodriguez Perales, Sandra author Jiménez-Romero, Ma Salud author 2018-06-05 The 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. Front Pediatr. 2018 5;6:163. 10.3389/fped.2018.00163 2296-2360 Frontiers in pediatrics 29922639 http://hdl.handle.net/20.500.12105/8382 CDH1L ROBO1 Chromosome 1q21.1 duplication syndrome Cognitive delay Language deficits Speech problems Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome