Language Impairment with a Partial Duplication of DOCK8

Antonio Benítez-Burraco; Maite Fernández-Urquiza; Mª Salud Jiménez-Romero

doi:10.1159/000511972

Language Impairment with a Partial Duplication of DOCK8

Mol Syndromol. 2020 Dec;11(5-6):243-263. doi: 10.1159/000511972. Epub 2020 Dec 11.

Authors

Antonio Benítez-Burraco¹, Maite Fernández-Urquiza², Mª Salud Jiménez-Romero³

Affiliations

¹ Department of Spanish, Linguistics, and Theory of Literature (Linguistics), University of Seville, Seville, Spain.
² Department of Spanish Philology, University of Oviedo, Oviedo, Spain.
³ Department of Education, University of Córdoba, Córdoba, Spain.

Abstract

Duplications of the distal region of the short arm of chromosome 9 are rare, but are associated with learning disabilities and behavioral disturbances. We report in detail the cognitive and language features of a child with a duplication in the 9p24.3 region, arr[hg19] 9p24.3(266,045-459,076)×3. The proband exhibits marked expressive and receptive problems, which affect both structural and functional aspects of language. These problems might result from a severe underlying deficit in working memory. Regarding the molecular causes of the observed symptoms, they might result from the altered expression of selected genes involved in procedural learning, particularly some of components of the SLIT/ROBO/FOXP2 network, strongly related to the development and evolution of language. Dysregulation of specific components of this network can result in turn from an altered interaction between DOCK8, affected by the microduplication, and CDC42, acting as the hub component of the network encompassing language-related genes.

Keywords: 9p24.3 duplication; Cognitive delay; DOCK8; Language deficits; SLIT/ROBO/FOXP2; Working memory.