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:	05 Dec 2022 14:20
Publisher DOI:	10.1002/mus.20005
PubMed ID:	15116370
Web of Science ID:	000221289300006
URI:	https://boris.unibe.ch/id/eprint/28382 (FactScience: 120485)