Referenced in: none

Automatically associated channels: ClC4 , ClC5

Title: A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy.

Authors: T Morimoto, A Chiba, Y Kondo, S Takahashi, T Igarashi, C N Inoue, K Iinuma

Journal, date & volume: Pediatr. Nephrol., 2001 Feb , 16, 110-2

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11261675

Abstract
ClC-5 is a chloride channel whose gene mutations have been reported to be associated with X-linked nephrolithiasis (XRN), X-linked recessive hypophosphatemic rickets (XLRH), Dent disease, and idiopathic low-molecular-weight proteinuria (ILMWP) in Japanese children. To establish more efficient screening for CLCN5 abnormalities, we developed a new diagnostic method using reverse transcription and polymerase chain reaction (RT-PCR) of cultured renal tubular cells from the urine of patients. Using this new method, we successfully detected microdeletion of ClC-5 mRNA in a patient and splicing abnormality of the CLCN5 Cl channel.