The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Acetylcholinesterase
/ genetics
Collagen
/ genetics
Consanguinity
DNA Copy Number Variations
Electroencephalography
Electromyography
Exons
/ genetics
Female
Genetic Association Studies
Homozygote
Humans
Infant
Male
Muscle Hypotonia
/ genetics
Muscle Proteins
/ genetics
Myasthenic Syndromes, Congenital
/ diagnosis
Pedigree
Polymorphism, Single Nucleotide
Sequence Deletion
Spasms, Infantile
/ genetics
COLQ
SNP-array
clinical exome sequencing
congenital myasthenic syndrome
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
18 12 2020
18 12 2020
Historique:
received:
17
11
2020
revised:
13
12
2020
accepted:
15
12
2020
entrez:
23
12
2020
pubmed:
24
12
2020
medline:
20
7
2021
Statut:
epublish
Résumé
Congenital myasthenic syndromes (CMSs) are caused by mutations in genes that encode proteins involved in the organization, maintenance, function, or modification of the neuromuscular junction. Among these, the collagenic tail of endplate acetylcholinesterase protein (COLQ; MIM 603033) has a crucial role in anchoring the enzyme into the synaptic basal lamina. Here, we report on the first case of a patient with a homozygous deletion affecting the last exons of the
Identifiants
pubmed: 33353066
pii: genes11121519
doi: 10.3390/genes11121519
pmc: PMC7765904
pii:
doi:
Substances chimiques
Muscle Proteins
0
Collagen
9007-34-5
Acetylcholinesterase
EC 3.1.1.7
COLQ protein, human
EC 3.1.1.7
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
Genes (Basel). 2020 Jun 26;11(6):
pubmed: 32604767
Orphanet J Rare Dis. 2019 Feb 26;14(1):57
pubmed: 30808424
Rev Neurol (Paris). 2004 Feb;160(2):163-76
pubmed: 15034473
Acta Myol. 2017 Mar;36(1):28-32
pubmed: 28690392
Arq Neuropsiquiatr. 2016 Sep;74(9):750-760
pubmed: 27706425
J Med Genet. 2009 Mar;46(3):203-8
pubmed: 19251977
J Clin Neuromuscul Dis. 2017 Mar;18(3):162-163
pubmed: 28221310
Hum Genet. 2014 May;133(5):599-616
pubmed: 24281389
Brain. 1993 Jun;116 ( Pt 3):633-53
pubmed: 8390325
Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9654-9
pubmed: 9689136
J Neurol. 2014 Nov;261(11):2234-43
pubmed: 25305004
Lancet Neurol. 2015 Apr;14(4):420-34
pubmed: 25792100
Neurology. 2015 Mar 24;84(12):1281-2
pubmed: 25695962
J Neurol. 2012 Mar;259(3):474-81
pubmed: 21822932
Am J Med Genet A. 2014 Mar;164A(3):828-33
pubmed: 24458984
Neuromuscul Disord. 2002 Aug;12(6):548-53
pubmed: 12117478
Neurol Sci. 2019 Mar;40(3):457-468
pubmed: 30554356
Eur J Paediatr Neurol. 2005;9(1):7-12
pubmed: 15701560
Neurol Genet. 2016 Oct 31;2(6):e117
pubmed: 27830186