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GENATLAS PHENOTYPE

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

Remark(s)

CNTNAP1 homozygous missense mutation (p.Arg388Pro), disrupting a beta-strand to cause an unstable structure and likely significant changes in protein function (PMID: 27668699))