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A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome

✍ 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

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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+1G→ → A). Other previously described varian