OCRL1mutations in patients with Dent disease phenotype in Japan
β Scribed by Takashi Sekine; Kandai Nozu; Rashmi Iyengar; Xue Jun Fu; Masafumi Matsuo; Ryojiro Tanaka; Kazumoto Iijima; Emiko Matsui; Yutaka Harita; Jun Inatomi; Takashi Igarashi
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 210 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0931-041X
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Mutations of OCRL1 are associated with both the Lowe oculocerebrorenal syndrome, a multisystemic and Dent-2 disease, a renal tubulopathy. We have identified a mutation in 130 Lowe syndrome families and 6 affected by Dent-2 disease with 51 of these mutations being novel. No founding effect was eviden
We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective,