Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors

Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors

Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia gravis (MG). We describe 2 childr...

Full description

Saved in:
Bibliographic Details
Main Authors: Tay, Chee Geap, Fong, Choong Yi, Li, Limin, Ganesan, Vigneswari, Teh, Chee Ming, Gan, Chin Seng, Thong, Meow-Keong
Format: Article
Published: Elsevier Sci Ltd 2020
Subjects:
RJ Pediatrics
Online Access:http://eprints.um.edu.my/36938/
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Universiti Malaya
id my.um.eprints.36938
record_format eprints
spelling my.um.eprints.369382024-11-07T06:14:14Z http://eprints.um.edu.my/36938/ Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors Tay, Chee Geap Fong, Choong Yi Li, Limin Ganesan, Vigneswari Teh, Chee Ming Gan, Chin Seng Thong, Meow-Keong RJ Pediatrics Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia gravis (MG). We describe 2 children from unrelated families who presented with hypotonia, ptosis and fatigability in early infancy with anti-AChR antibodies detected via ELISA on 2 separate occasions in the sera. Both were treated as refractory autoimmune MG due to poor clinical response to acetylcholinesterase inhibitor and immunotherapy. In view of the atypical clinical features, genetic studies of CMS were performed and both were confirmed to have novel pathogenic mutations in the COLQ gene. To the best of our knowledge, the presence of anti-AChR antibody in COLQ-related CMS has never been reported in the literature. The clinical presentation of early onset phenotype, and refractoriness to acetylcholinesterase inhibitor and immunotherapy should prompt CMS as a differential diagnosis. (C) 2019 Elsevier Ltd. All rights reserved. Elsevier Sci Ltd 2020-02 Article PeerReviewed Tay, Chee Geap and Fong, Choong Yi and Li, Limin and Ganesan, Vigneswari and Teh, Chee Ming and Gan, Chin Seng and Thong, Meow-Keong (2020) Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors. Journal of Clinical Neuroscience, 72. pp. 468-471. ISSN 0967-5868, DOI https://doi.org/10.1016/j.jocn.2019.12.007 <https://doi.org/10.1016/j.jocn.2019.12.007>. 10.1016/j.jocn.2019.12.007
institution Universiti Malaya
building UM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Malaya
content_source UM Research Repository
url_provider http://eprints.um.edu.my/
topic RJ Pediatrics
spellingShingle RJ Pediatrics
Tay, Chee Geap
Fong, Choong Yi
Li, Limin
Ganesan, Vigneswari
Teh, Chee Ming
Gan, Chin Seng
Thong, Meow-Keong
Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors
description Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia gravis (MG). We describe 2 children from unrelated families who presented with hypotonia, ptosis and fatigability in early infancy with anti-AChR antibodies detected via ELISA on 2 separate occasions in the sera. Both were treated as refractory autoimmune MG due to poor clinical response to acetylcholinesterase inhibitor and immunotherapy. In view of the atypical clinical features, genetic studies of CMS were performed and both were confirmed to have novel pathogenic mutations in the COLQ gene. To the best of our knowledge, the presence of anti-AChR antibody in COLQ-related CMS has never been reported in the literature. The clinical presentation of early onset phenotype, and refractoriness to acetylcholinesterase inhibitor and immunotherapy should prompt CMS as a differential diagnosis. (C) 2019 Elsevier Ltd. All rights reserved.
format Article
author Tay, Chee Geap
Fong, Choong Yi
Li, Limin
Ganesan, Vigneswari
Teh, Chee Ming
Gan, Chin Seng
Thong, Meow-Keong
author_facet Tay, Chee Geap
Fong, Choong Yi
Li, Limin
Ganesan, Vigneswari
Teh, Chee Ming
Gan, Chin Seng
Thong, Meow-Keong
author_sort Tay, Chee Geap
title Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors
title_short Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors
title_full Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors
title_fullStr Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors
title_full_unstemmed Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors
title_sort congenital myasthenic syndrome with novel pathogenic variants in the colq gene associated with the presence of antibodies to acetylcholine receptors
publisher Elsevier Sci Ltd
publishDate 2020
url http://eprints.um.edu.my/36938/
_version_ 1816130388009943040

Similar Items