Journal
MUSCLE & NERVE
Volume 55, Issue 5, Pages 761-765Publisher
WILEY
DOI: 10.1002/mus.25416
Keywords
CNTNAP1; congenital neuropathy; exome sequencing; hypomyelination; missense mutation; nerve conduction
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Funding
- National Institutes of Health [T32HD007466, R01AR068429, U19HD077671, P30HD18655]
- Gene Discovery Core of The Manton Center for Orphan Disease Research
- [MDA383249]
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IntroductionCongenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy that presents in the neonatal period and has been linked previously to mutations in several genes associated with myelination. A recent study has linked 4 homozygous frameshift mutations in the contactin-associated protein 1 (CNTNAP1) gene with this condition. MethodsWe report a neonate with CHN who was found to have absent sensory nerve and compound muscle action potentials and hypomyelination on nerve biopsy. ResultsOn whole exome sequencing, we identified a novel CNTNAP1 homozygous missense mutation (p.Arg388Pro) in the proband, and both parents were carriers. Molecular modeling suggests that this variant disrupts a -strand to cause an unstable structure and likely significant changes in protein function. ConclusionsThis report links a missense CNTNAP1 variant to the disease phenotype previously associated only with frameshift mutations. Muscle Nerve 55: 761-765, 2017
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