Homozygous deletion of Tenascin-R in a patient with intellectual disability.
BACKGROUND
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.


RESULTS
The authors present the case of a child with intellectual disability and transient choreoathetosis. Array genomic hybridisation revealed a homozygous deletion involving only two genes, including TNR. Sequencing TNR in a cohort of 219 patients with intellectual disability did not identify any potential pathogenic mutations.


CONCLUSIONS
This is the first report of a complete loss of TNR associated with intellectual disability. This study provides evidence of the important role of TNR in brain development and cognition in humans.
Division of Pediatric Neurology, Departments of Neurology/Neurosurgery, McGill University, Montreal Children’s Hospital-McGill University Health Center, Quebec, Canada.
David
D
Dufresne
Fadi F
FF
Hamdan
Jill A
JA
Rosenfeld
Beth
B
Torchia
Bernard
B
Rosenblatt
Jacques L
JL
Michaud
Myriam
M
Srour
D002490:Central Nervous System / Q000378:metabolism; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009693:Nucleic Acid Hybridization / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D019063:Tenascin / Q000235:genetics* / Q000378:metabolism
D019063:Tenascin; C074638:tenascin R