Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.

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Xanthinuria Type I is caused by mutations in the xanthine dehydrogenase gene (XDH ). We report on a patient suffering from xanthinuria . Genomic DNA was screened for point mutations and imbalances in the XDH gene by sequencing and microarray typing . We could identify homozygosity of a multiexon deletion in the XDH gene ; large genomic imbalances have not yet been reported in this disease . As our case and other studies on genetic alterations in kidney diseases show , large deletions (and duplications ) significantly contribute to the etiology of these entities , specific assays to discover these imbalances should therefore be included in genetic testing approaches .