A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 2596-2602, 2016.
Article
in English
| WPRIM
| ID: wpr-230915
ABSTRACT
<p><b>BACKGROUND</b>Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS).</p><p><b>METHODS</b>Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined, and next-generation sequencing followed by direct sequencing was carried out.</p><p><b>RESULTS</b>The patients revealed variability in clinical and electrophysiological features. However, weakness, scoliosis, and repetitive-compound muscle action potential were found in all affected members in the family. A heterozygous C>T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit (CHRNE) gene that causes a leucine-to-phenylalanine substitution at position 289 (L289F) was found.</p><p><b>CONCLUSIONS</b>We reported a SCCMS family of Chinese origin. In the family, classical clinical phenotype with phenotypic variability among different members was found. Genetic testing could help diagnose this rare disease.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Receptors, Nicotinic
/
Mutation, Missense
/
Myasthenic Syndromes, Congenital
/
Electrophysiology
/
Genetics
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
English
Journal:
Chinese Medical Journal
Year:
2016
Type:
Article
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