title: Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33.
abstract: Mutations in ion channels have been shown to be responsible for a variety of neurological and muscular diseases. The voltage-gated chloride channel CLCN3 was recently mapped to chromosomal region 4q32. We are analysing a young female patient with Wolf-Hirschhorn syndrome and chorea associated with an inversion-deletion of chromosome 4 [46XX,inv(4)del(4)(qter-->q33::p15.32-->q33]. Considering that chorea in this patient might be due to the disruption of a gene at either of the 4p15.32 or 4q33 breakpoints, CLCN3 was considered as a candidate gene. We showed by FISH analysis with a CLCN3 YAC that the gene was not broken by the inv-del event, and was therefore an unlikely candidate. Using high resolution techniques, we refined the localisation of CLCN3 to 4q33.
authors.affiliation: Laboratoire de Pathologie Moléculaire et Thérapie Génique, Université Victor Segalen Bordeaux, France.
authors.forename: L
authors.initials: L
authors.lastname: Taine
authors.forename: I
authors.initials: I
authors.lastname: Coupry
authors.forename: P
authors.initials: P
authors.lastname: Boisseau
authors.forename: R
authors.initials: R
authors.lastname: Saura
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: B
authors.initials: B
authors.lastname: Arveiler
mesh_terms: D018118:Chloride Channels / Q000235:genetics*; D002819:Chorea / Q000235:genetics; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: D018118:Chloride Channels; C115376:ClC-3 channel