Language impairment with a microduplication in 1q42.3q43.
Deletions and duplications of the distal region of the long arm of chromosome 1 are associated with brain abnormalities and developmental delay. Because duplications are less frequent than deletions, no detailed account of the cognitive profile of the affected people is available, particularly, rega...
| Publicado en: | Clinical Linguistics & Phonetics Vol. 35; no. 7; pp. 610 - 636 |
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| Autores principales: | , , |
| Formato: | pictorial research tables/charts Journal Article |
| Publicado: |
Taylor & Francis Ltd
2021
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=151136465&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 151136465 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 02699206 B6X jtl: Clinical Linguistics & Phonetics issn: 02699206 maglogo: Y pubinfo: dt: 2021 vid: 35 iid: 7 pid: 377 pub: Taylor & Francis Ltd place: Philadelphia, Pennsylvania artinfo: ui: 151136465 145582694 151136465 151136465 10.1080/02699206.2020.1812119 151136465 ppf: 610 ppct: 26 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Language impairment with a microduplication in 1q42.3q43. aug: au: Benítez-Burraco, Antonio Fernández-Urquiza, Maite Jiménez-Romero, Salud affil: Department of Spanish, Linguistics, and Theory of Literature (Linguistics), University of Seville, Seville, Spain sug: subj: Language Disorders Physiopathology Chromosome Aberrations Cognition Evaluation Language Evaluation Functional Assessment Human Funding Source Female Mutation Speech Articulation Disorders, Functional Language Processing Auditory Perceptual Disorders Memory Disorders Conversation Genetics, Medical Cerebellum Behavior Evaluation Neuropsychological Tests Motor Activity Scales Cytogenetic Analysis Molecular Biology Biochips Child Development Disorders Language Development Female ab: Deletions and duplications of the distal region of the long arm of chromosome 1 are associated with brain abnormalities and developmental delay. Because duplications are less frequent than deletions, no detailed account of the cognitive profile of the affected people is available, particularly, regarding their language (dis)abilities. In this paper we report on the cognitive and language capacities of a girl with one of the smallest interstitial duplications ever described in this region, affecting to 1q42.3q43 (arr[hg19] 1q42.3q43(235,963,632–236,972,276)x3), and advance potential candidate genes for the observed deficits. The proband's speech is severely impaired, exhibiting dysarthric-like features, with speech problems also resulting from a phonological deficit boiling down to a verbal auditory memory deficit. Lexical and grammatical knowledge are also impaired, impacting negatively on both expressive and receptive abilities, seemingly as a consequence of the phonological deficit. Still, her pragmatic abilities seem to be significantly spared, granting her a good command on the principles governing conversational exchanges. Genetic analyses point to several genes of interest. These include one gene within the duplicated region (LYST), one predicted functional partner (CMIP), and three genes outside the 1q42.3q43 region, which are all highly expressed in the cerebellum: DDIT4 and SLC29A1, found strongly downregulated in the proband compared to her healthy parents, and CNTNAP3, found strongly upregulated. The genes highlighted in the paper emerge as potential candidates for the phonological and speech deficits exhibited by the proband and ultimately, for her problems with language. pubtype: Academic Journal doctype: pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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