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Research Article Free access | 10.1172/JCI119421

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.

K Ichida, Y Amaya, N Kamatani, T Nishino, T Hosoya, and O Sakai

Second Department of Medicine, The Jikei University School of Medicine, Tokyo 105.

Find articles by Ichida, K. in: PubMed | Google Scholar

Second Department of Medicine, The Jikei University School of Medicine, Tokyo 105.

Find articles by Amaya, Y. in: PubMed | Google Scholar

Second Department of Medicine, The Jikei University School of Medicine, Tokyo 105.

Find articles by Kamatani, N. in: PubMed | Google Scholar

Second Department of Medicine, The Jikei University School of Medicine, Tokyo 105.

Find articles by Nishino, T. in: PubMed | Google Scholar

Second Department of Medicine, The Jikei University School of Medicine, Tokyo 105.

Find articles by Hosoya, T. in: PubMed | Google Scholar

Second Department of Medicine, The Jikei University School of Medicine, Tokyo 105.

Find articles by Sakai, O. in: PubMed | Google Scholar

Published May 15, 1997 - More info

Published in Volume 99, Issue 10 on May 15, 1997
J Clin Invest. 1997;99(10):2391–2397. https://doi.org/10.1172/JCI119421.
© 1997 The American Society for Clinical Investigation
Published May 15, 1997 - Version history
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Abstract

Hereditary xanthinuria is classified into three categories. Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities. In the present study, we examined four individuals with classical xanthinuria to discover the cause of the enzyme deficiency at the molecular level. One subject had a C to T base substitution at nucleotide 682 that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 228. The duodenal mucosa from the subject had no xanthine dehydrogenase protein while the mRNA level was not reduced. The two subjects who were siblings with type I xanthinuria were homozygous concerning this mutation, while another subject was found to contain the same mutation in a heterozygous state. The last subject who was also with type I xanthinuria had a deletion of C at nucleotide 2567 in cDNA that should generate a termination codon from nucleotide 2783. This subject was homozygous for the mutation and the level of mRNA in the duodenal mucosa from the subject was not reduced. Thus, in three subjects with type I xanthinuria, the primary genetic defects were confirmed to be in the xanthine dehydrogenase gene.

Version history
  • Version 1 (May 15, 1997): No description

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