Journal article
Exon 17 skipping in CLCN1 leads to recessive myotonia congenita.
- Chen L Departments of Neurology and Clinical Research, Laboratory of Neuromorphology, University of Berne, Berne, Switzerland.
- Schaerer M
- Lu ZH
- Lang D
- Joncourt F
- Weis J
- Fritschi J
- Kappeler L
- Gallati S
- Sigel E
- Burgunder JM
- 2004-04-30
Published in:
- Muscle & nerve. - 2004
Adult
Aged
Animals
Chloride Channels
DNA Mutational Analysis
Exons
Female
Genes, Recessive
Humans
Male
Myotonia Congenita
Point Mutation
Xenopus laevis
English
Mutations in CLCN1, the gene encoding the ClC-1 chloride channel in skeletal muscle, lead to myotonia congenita. The effects on the intramembranous channel forming domains have been investigated more than that at the intracellular C-terminus. We have performed a mutation screen involving the whole CLCN1 gene of patients with myotonia congenita by polymerase chain reaction (PCR), single-strand conformation polymorphism studies, and sequencing. Two unrelated patients harbored the same homozygous G-to-T mutation on the donor splice site of intron 17. This led to the skipping of exon 17, as evidenced by the reverse transcriptase PCR. When the exon 17-deleted CLCN1 was expressed in Xenopus oocytes, no chloride current was measurable. This function could be restored by coexpression with the wild-type channel. Our data suggest an important role of this C-terminal region and that exon 17 skipping resulting from a homozygous point mutation in CLCN1 can lead to recessive myotonia congenita.
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1002/mus.20005
- PMID 15116370
- Persistent URL
- https://sonar.ch/global/documents/55849
Export to…
Statistics
Document views: 50
File downloads: