Benítez-Burraco Antonio, Fernández-Urquiza Maite, Jiménez-Romero Mª Salud
Department of Spanish, Linguistics, and Theory of Literature (Linguistics), University of Seville, Seville, Spain.
Department of Spanish Philology, University of Oviedo, Oviedo, Spain.
Mol Syndromol. 2020 Dec;11(5-6):243-263. doi: 10.1159/000511972. Epub 2020 Dec 11.
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.
9号染色体短臂远端区域的重复很少见，但与学习障碍和行为紊乱有关。我们详细报告了一名9p24.3区域存在重复（arr[hg19] 9p24.3(266,045 - 459,076)×3）的儿童的认知和语言特征。先证者表现出明显的表达和接受问题，这影响了语言的结构和功能方面。这些问题可能源于工作记忆中严重的潜在缺陷。关于观察到的症状的分子原因，可能是由于参与程序学习的特定基因表达改变，特别是SLIT/ROBO/FOXP2网络的一些组成部分，这些与语言的发展和进化密切相关。该网络特定成分的失调可能又源于受微重复影响的DOCK8与作为包含语言相关基因的网络枢纽成分的CDC42之间相互作用的改变。
