A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
β Scribed by Hiroyuki Torisu; Ryutaro Kira; Naomi Kanazawa; Megumi Takemoto; Masafumi Sanefuji; Yasunari Sakai; Seiichi Tsujino; Toshiro Hara
- Book ID
- 113498312
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 120 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0387-7604
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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expande
Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. Seven novel mutations were identified (Q89X, G27R, G190D, R275Q, c.861insG, c.164insA, and IVS5+1Gβ β A). Other previously described varian