Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
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ABSTRACT:
SUBMITTER: Salpietro V
PROVIDER: S-EPMC5413866 | biostudies-other | 2017 Apr
REPOSITORIES: biostudies-other
Publications
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Salpietro Vincenzo V Lin Weichun W Delle Vedove Andrea A Storbeck Markus M Liu Yun Y Efthymiou Stephanie S Manole Andreea A Wiethoff Sarah S Ye Qiaohong Q Saggar Anand A McElreavey Kenneth K Krishnakumar Shyam S SS Pitt Matthew M Bello Oscar D OD Rothman James E JE Basel-Vanagaite Lina L Hubshman Monika Weisz MW Aharoni Sharon S Manzur Adnan Y AY Wirth Brunhilde B Houlden Henry H
Annals of neurology 20170329 4
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 muta ...[more]
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