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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 25-11-2016
Symbol CHN1
Location 17q21.2
Name congenital hypomyelinating neuropathy 1
Corresponding gene CNTNAP1
Main clinical features
  • absent sensory nerve and compound muscle action potentials and hypomyelination on nerve biopsy
  • brain magnetic resonance imaging (MRI) revealed patchy signal abnormalities within the cerebral white matter, and a small lactate peak
  • nerve biopsy showed hypomyelination without evidence of onion bulbs or myelin breakdown product
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
  • CNTNAP1 homozygous missense mutation (p.Arg388Pro), disrupting a beta-strand to cause an unstable structure and likely significant changes in protein function (PMID: 27668699))