タナカ　リョウジロウ   Ryojiro Tanaka   田中　亮二郎    所属   川崎医科大学  医学部 臨床医学　小児科学    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	OCRL1 mutations in patients with Dent disease phenotype in Japan.
掲載誌名	正式名：Pediatric nephrology (Berlin, Germany) 略　 称：Pediatr Nephrol ISSNコード：0931041X/0931041X
掲載区分	国外
巻・号・頁	22(7),pp.975-80
著者・共著者	Takashi Sekine, Kandai Nozu, Rashmi Iyengar, Xue Jun Fu, Masafumi Matsuo, Ryojiro Tanaka, Kazumoto Iijima, Emiko Matsui, Yutaka Harita, Jun Inatomi, Takashi Igarashi
発行年月	2007/07
概要	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.
DOI	10.1007/s00467-007-0454-x
PMID	17384968