Ontology highlight
ABSTRACT:
SUBMITTER: Dufresne D
PROVIDER: S-EPMC3395313 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Dufresne David D Hamdan Fadi F FF Rosenfeld Jill A JA Torchia Beth B Rosenblatt Bernard B Michaud Jacques L JL Srour Myriam M
Journal of medical genetics 20120622 7
<h4>Background</h4>TNR encodes Tenascin-R, an extracellular matrix glycoprotein that is primarily expressed in the central nervous system. Loss of TNR impairs cognition, synaptic plasticity and motor abilities in mice, however its role in human neurodevelopment and cognition is less clear.<h4>Methods and results</h4>The authors present the case of a child with intellectual disability and transient choreoathetosis. Array genomic hybridisation revealed a homozygous deletion involving only two gene ...[more]