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Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome

Salpietro, V; Lin, W; Delle Vedove, A; Storbeck, M; Liu, Y; Efthymiou, S; Manole, A; ... Houlden, H; + view all (2017) Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome. Annals of Neurology , 81 (4) pp. 597-603. 10.1002/ana.24905. Green open access

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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

Type: Article
Title: Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/ana.24905
Publisher version: http://dx.doi.org/10.1002/ana.24905
Language: English
Additional information: © 2017 The Authors. Annals of Neurology Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, Neurotransmitter Release, Neuromuscular-Junction, Snare Complex, Exocytosis, Diagnosis, Variants, Fusion, Mutant
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/1554590
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