Universität zu Köln

Salpietro, Vincenzo ORCID: 0000-0003-0132-7921, Lin, Weichun, Delle Vedove, Andrea, Storbeck, Markus, Liu, Yun ORCID: 0000-0003-2063-7132, Efthymiou, Stephanie, Manole, Andreea ORCID: 0000-0002-9397-8248, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnakumar, Shyam S., Pitt, Matthew, Bello, Oscar D., Rothman, James E., Basel-Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan Y., Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Houlden, Henry (2017). Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome. Ann. Neurol., 81 (4). S. 597 - 604. HOBOKEN: WILEY. ISSN 1531-8249

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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 VAMP1(lew/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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Salpietro, Vincenzo UNSPECIFIED orcid.org/0000-0003-0132-7921 UNSPECIFIED Lin, Weichun UNSPECIFIED UNSPECIFIED UNSPECIFIED Delle Vedove, Andrea UNSPECIFIED UNSPECIFIED UNSPECIFIED Storbeck, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Liu, Yun UNSPECIFIED orcid.org/0000-0003-2063-7132 UNSPECIFIED Efthymiou, Stephanie UNSPECIFIED UNSPECIFIED UNSPECIFIED Manole, Andreea UNSPECIFIED orcid.org/0000-0002-9397-8248 UNSPECIFIED Wiethoff, Sarah UNSPECIFIED UNSPECIFIED UNSPECIFIED Ye, Qiaohong UNSPECIFIED UNSPECIFIED UNSPECIFIED Saggar, Anand UNSPECIFIED UNSPECIFIED UNSPECIFIED McElreavey, Kenneth UNSPECIFIED UNSPECIFIED UNSPECIFIED Krishnakumar, Shyam S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pitt, Matthew UNSPECIFIED UNSPECIFIED UNSPECIFIED Bello, Oscar D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rothman, James E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Basel-Vanagaite, Lina UNSPECIFIED UNSPECIFIED UNSPECIFIED Hubshman, Monika Weisz UNSPECIFIED UNSPECIFIED UNSPECIFIED Aharoni, Sharon UNSPECIFIED UNSPECIFIED UNSPECIFIED Manzur, Adnan Y. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wirth, Brunhilde UNSPECIFIED orcid.org/0000-0003-4051-5191 UNSPECIFIED Houlden, Henry UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-235823
DOI:	10.1002/ana.24905
Journal or Publication Title:	Ann. Neurol.
Volume:	81
Number:	4
Page Range:	S. 597 - 604
Date:	2017
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1531-8249
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language NEUROTRANSMITTER RELEASE; NEUROMUSCULAR-JUNCTION; SNARE COMPLEX; EXOCYTOSIS; DIAGNOSIS; VARIANTS; FUSION; MUTANT Multiple languages Clinical Neurology; Neurosciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23582