OCRL1 mutations in patients with Dent disease phenotype in Japan.
Three distinct OCRL1 mutations in three patients with the Dent disease phenotype are described. All the patients manifested an extremely high degree of low-molecular-weight proteinuria and showed no ocular abnormalities or apparent mental retardation. Urinalysis and blood chemistry showed no findings suggestive of Fanconi syndrome with renal tubular acidosis. Mutations in CLCN5 were ruled out. The mutations identified in OCRL1 are one frame-shift mutation (I127stop) and two missense mutations (R301C and R476W). R301C and R476W mutations might be hot spots in OCRL1, which develop very similar phenotypes as Dent-2.
Sekine
Takashi
T
Department of Pediatrics, Graduate School of Medicine,The University of Tokyo, Tokyo, Japan. sekinet-tky@umin.ac.jp
Nozu
Kandai
K
Iyengar
Rashmi
R
Fu
Xue Jun
XJ
Matsuo
Masafumi
M
Tanaka
Ryojiro
R
Iijima
Kazumoto
K
Matsui
Emiko
E
Harita
Yutaka
Y
Inatomi
Jun
J
Igarashi
Takashi
T
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D009800:Oculocerebrorenal Syndrome / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D011507:Proteinuria; D017422:Sequence Analysis, DNA
D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human