title: Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
abstract: 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.
authors.affiliation: Institute of Human Genetics, University Hospital, RWTH Aachen, Germany. teggermann@ukaachen.de
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.forename: Sabrina
authors.initials: S
authors.lastname: Spengler
authors.forename: Bernd
authors.initials: B
authors.lastname: Denecke
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
authors.forename: Christoph J
authors.initials: CJ
authors.lastname: Mache
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D005091:Exons; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000652:urine; D017354:Point Mutation; D017384:Sequence Deletion; D019820:Xanthine / Q000652:urine*; D014968:Xanthine Dehydrogenase / Q000172:deficiency / Q000235:genetics* / Q000652:urine
chemical_list: D019820:Xanthine; D004247:DNA; D014968:Xanthine Dehydrogenase