2002
DOI: 10.1002/humu.9038
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Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients

Abstract: 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 singlebasepair 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 missense mutatio… Show more

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Cited by 68 publications
(66 citation statements)
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“…This change alters the lysine codon at position 322 to an arginine codon (p.Lys322Arg). This mutation has previously been reported 3 and is postulated to be pathogenic owing to its position within the molybdenum cofactor-binding domain in close proximity to the enzyme-active site. Administration of multiple antiepileptic medications resulted in only slight improvement in seizure frequency.…”
Section: Report Of a Casementioning
confidence: 93%
“…This change alters the lysine codon at position 322 to an arginine codon (p.Lys322Arg). This mutation has previously been reported 3 and is postulated to be pathogenic owing to its position within the molybdenum cofactor-binding domain in close proximity to the enzyme-active site. Administration of multiple antiepileptic medications resulted in only slight improvement in seizure frequency.…”
Section: Report Of a Casementioning
confidence: 93%
“…From a human perspective, three molybdoenzymes-sulfite oxidase, xanthine oxidase and aldehyde oxidase-are essential for proper health. In the extreme cases where genetic errors prevent the biosynthesis of functional molybdoenzymes, the resultant neurological problems are typically fatal [9][10][11][12].…”
Section: Introductionmentioning
confidence: 99%
“…Several new point mutations in human SO have been identified by genetic analysis of SO deficiency patients [89,90]; all of them locate near the Mo active site. It is clearly important to clone and express these novel mutants and to carry out integrated structural and functional studies in order to understand the underlying mechanism of the fatal effects.…”
mentioning
confidence: 99%