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.
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Received: 3 May 2000 / Revised: 16 October 2000 / Accepted: 19 October 2000
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Morimoto, T., Chiba, A., Kondo, Y. et al. A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy. Pediatr Nephrol 16, 110–112 (2001). https://doi.org/10.1007/s004670000533
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DOI: https://doi.org/10.1007/s004670000533