Exon 17 skipping in CLCN1 leads to recessive myotonia congenita

Chen, Lie; Schaerer, Martin; Lu, Zen H; Lang, Doris; Joncourt, Franziska; Weis, Joachim; Fritschi, Juerg; Kappeler, Lilianne; Gallati, Sabina; Sigel, Erwin; Burgunder, Jean-Marc (2004). Exon 17 skipping in CLCN1 leads to recessive myotonia congenita. Muscle & nerve, 29(5), pp. 670-6. New York, N.Y.: John Wiley & Sons 10.1002/mus.20005

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Burgunder, Jean-Marc

ISSN:

0148-639X

ISBN:

15116370

Publisher:

John Wiley & Sons

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 15:05

Last Modified:

04 May 2014 23:20

Publisher DOI:

10.1002/mus.20005

PubMed ID:

15116370

Web of Science ID:

000221289300006

URI:

https://boris.unibe.ch/id/eprint/28382 (FactScience: 120485)

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