OCRL1 mutations in patients with Dent disease phenotype in Japan

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• 作者：Takashi Sekine ; Kandai Nozu ; Rashmi Iyengar ; Xue Jun Fu ; Masafumi Matsuo ; Ryojiro Tanaka ; Kazumoto Iijima ; Emiko Matsui ; Yutaka Harita and Jun Inatomi ; et al.
• 关键词：Dent disease ; Lowe syndrome ; OCRL1 ; CLCN5
• 刊名：Pediatric Nephrology
• 出版年：2007
• 出版时间：July, 2007
• 年：2007
• 卷：22
• 期：7
• 页码：975-980
• 全文大小：209 KB

文摘

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.