An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome

J S Müller; R Stucka; S Neudecker; S Zierz; C Schmidt; A Huebner; H Lochmüller; A Abicht

doi:10.1212/01.wnl.0000172346.26219.fd

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome

Neurology. 2005 Aug 9;65(3):463-5. doi: 10.1212/01.wnl.0000172346.26219.fd.

Authors

J S Müller¹, R Stucka, S Neudecker, S Zierz, C Schmidt, A Huebner, H Lochmüller, A Abicht

Affiliation

¹ Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany.

PMID: 16087917
DOI: 10.1212/01.wnl.0000172346.26219.fd

Abstract

Reported is a patient with a congenital myasthenic syndrome due to two compound heterozygous mutations of the CHRNE gene. The molecular consequences of a novel intronic base alteration (CHRNE IVS5-16GA) remote from the splice acceptor site were investigated in vivo and in vitro. In conclusion, RNA analysis may be necessary to reveal unexpected splicing aberrations due to intronic mutations that are not part of the consensus splice site.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Alternative Splicing / genetics
Base Sequence / genetics
Cell Line
Codon, Nonsense / genetics
DNA Mutational Analysis
Female
Frameshift Mutation / genetics
Genetic Predisposition to Disease / genetics*
Humans
Introns / genetics*
Muscle Weakness / genetics
Muscle, Skeletal / metabolism
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Mutation / genetics*
Myasthenic Syndromes, Congenital / genetics*
RNA / genetics
RNA Splice Sites / genetics
Receptors, Nicotinic / genetics*

Substances

CHRNE protein, human
Codon, Nonsense
RNA Splice Sites
Receptors, Nicotinic
RNA