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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Tenascin-R (TNR) is a crucial extracellular matrix glycoprotein in the central nervous system.
  • TNR is vital for neural development, synaptic plasticity, and neural stem cell functions.
  • Biallelic TNR variants are linked to neurodevelopmental disorders with motor abnormalities.

Purpose of the Study:

  • To report novel compound heterozygous TNR variants in two Japanese siblings.
  • To describe the clinical spectrum and genotype-phenotype correlations of TNR-related diseases.
  • To investigate the variable expressivity and reduced penetrance in TNR-related disorders.

Main Methods:

  • Whole exome sequencing and Sanger sequencing were used for variant identification.
  • Clinical data from two affected siblings and 13 previously reported patients were analyzed.
  • Phenotypic variability and severity were assessed in relation to TNR variants.

Main Results:

  • Two novel compound heterozygous TNR missense variants (c.[1783G>A];[3766C>T]) were identified.
  • The siblings presented with diverse phenotypes, including dystonia and restless legs syndrome.
  • Significant phenotypic variability and reduced penetrance were observed among patients with TNR variants.

Conclusions:

  • The findings expand the clinical spectrum of Tenascin-R-related diseases.
  • Variable expressivity and reduced penetrance suggest the influence of genetic or environmental modifiers.
  • Further research, including functional studies, is needed to elucidate TNR disease pathogenesis and genotype-phenotype correlations.