Language Impairment with a Partial Duplication of < b > < i > DOCK8 < /i > < /b >

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 f rom 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 interac tion between DOCK8, affected by the microduplication, and CDC42, acting as the hub component of the network encompassing language-related genes.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research