A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy.
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.
Morimoto
T
T
Department of Pediatrics, Tohoku University, School of Medicine, Sendai, Japan.
Chiba
A
A
Kondo
Y
Y
Takahashi
S
S
Igarashi
T
T
Inoue
C N
CN
Iinuma
K
K
D002478:Cells, Cultured; D018118:Chloride Channels / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics / Q000378:metabolism; D007669:Kidney Calculi / Q000235:genetics* / Q000378:metabolism / Q000652:urine; D007687:Kidney Tubules, Proximal / Q000378:metabolism*; D011507:Proteinuria / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D005723:gamma-Glutamyltransferase / Q000378:metabolism
C097503:CLC-5 chloride channel; D018118:Chloride Channels; D012333:RNA, Messenger; D005723:gamma-Glutamyltransferase