Referenced in: none

Automatically associated channels: ClC3 , ClC4 , Kir2.3

Title: Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33.

Authors: L Taine, I Coupry, P Boisseau, R Saura, D Lacombe, B Arveiler

Journal, date & volume: Hum. Genet., 1998 Feb , 102, 178-81

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9521585

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.