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Dusl, M.* ; Moreno, T.* ; Munell, F.* ; Macaya, A.* ; Gratacòs, M.* ; Abicht, A.* ; Strom, T.M. ; Lochmüller, H.* ; Senderek, J.*

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

J. Neurol. 266, 1107-1112 (2019)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
Collagen XIII is a non-fibrillar transmembrane collagen which has been long recognized for its critical role in synaptic maturation of the neuromuscular junction. More recently, biallelic COL13A1 loss-of-function mutations were identified in three patients with congenital myasthenic syndrome (CMS), a rare inherited condition with defective neuromuscular transmission, causing abnormal fatigability and fluctuating muscle weakness and often successfully treated with acetylcholinesterase inhibitors. Here we report six additional CMS patients from three unrelated families with previously unreported homozygous COL13A1 loss-of-function mutations (p.Tyr216*, p.Glu543fs and p.Thr629fs). The phenotype of our cases was similar to the previously reported patients including respiratory distress and severe dysphagia at birth that often resolved or improved in the first days or weeks of life. All individuals had prominent eyelid ptosis with only minor ophthalmoparesis as well as generalized muscle weakness, predominantly affecting facial, bulbar, respiratory and axial muscles. Response to acetylcholinesterase inhibitor treatment was generally negative while salbutamol proved beneficial. Our data further support the causality of COL13A1 variants for CMS and suggest that this type of CMS might be clinically homogenous and requires alternative pharmacological therapy.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Col13a1 ; Collagen Type Xiii Alpha 1 Chain ; Autosomal Recessive ; Congenital Myasthenic Syndrome ; Neuromuscular Junction; Pain
ISSN (print) / ISBN 0340-5354
e-ISSN 1432-1459
Journal Journal of Neurology
Quellenangaben Volume: 266, Issue: 5, Pages: 1107-1112 Article Number: , Supplement: ,
Publisher Springer
Publishing Place Tiergartenstrasse 17, D-69121 Heidelberg, Germany
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)