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Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

Abstract : We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Israeli family. VAMP1 is crucial for vesicle fusion at presynaptic neuromuscular junction (NMJ). Electrodiagnostic examination showed severely low compound muscle action potentials and presynaptic impairment. We assessed the effect of the nonsense mutation on mRNA levels and evaluated the NMJ transmission in VAMP1lew/lew mice, observing neurophysiological features of presynaptic impairment, similar to the patients. Taken together, our findings highlight VAMP1 homozygous mutations as a cause of presynaptic CMS. Ann Neurol 2017;81:597-603.
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Contributor : Ken McElreavey Connect in order to contact the contributor
Submitted on : Tuesday, January 11, 2022 - 6:43:49 PM
Last modification on : Thursday, May 12, 2022 - 9:12:09 AM
Long-term archiving on: : Tuesday, April 12, 2022 - 8:01:02 PM


Annals of Neurology - 2017 - S...
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Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, et al.. Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome. Annals of Neurology, 2017, 81 (4), pp.597-603. ⟨10.1002/ana.24905⟩. ⟨pasteur-03521847⟩



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