Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients

  title={Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients},
  author={J. L. Johnson and K. E. Coyne and R. Garrett and M. Zabot and C. Dorche and C. Kisker and K. Rajagopalan},
  journal={Human Mutation},
We report twelve novel mutations in patients with isolated sulfite oxidase deficiency. The mutations are in SUOX, the gene that encodes the molybdohemoprotein sulfite oxidase. These include two frameshift mutations, a four‐basepair deletion (562del4) and a single‐basepair insertion (113insC), both resulting in premature termination. Nonsense mutations predicting Y343X and Q364X substitutions were identified in a homozygous state in three patients, the latter in two sibs. The remaining eight are… Expand
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