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XDH gene mutation is the underlying cause of classical xanthinuria: a second report
D Levartovsky1, A Lagziel, O Sperling
1Tel Aviv Sourasky Medical Center and Rabin Medical Center, Tel Aviv University, Tel Aviv, Israel.
Kidney International
|June 9, 2000
Summary
Classical xanthinuria type I is caused by mutations in the xanthine dehydrogenase (XDH) gene. A novel 1658insC mutation in the XDH gene was identified in an Iranian-Jewish family, confirming its role in this rare disorder.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Classical xanthinuria is a rare autosomal recessive disorder.
- Type I xanthinuria results from isolated xanthine dehydrogenase (XDH) deficiency.
- The XDH gene is located on chromosome 2p22-23.
Observation:
- An Iranian-Jewish family with classical xanthinuria was studied.
- Homozygosity mapping linked xanthinuria to the XDH gene locus.
- A novel mutation was sought using PCR-SSCP and sequencing.
Findings:
- The index case was homozygous for XDH-linked microsatellite markers.
- A 1658insC mutation in exon 16 of the XDH gene was identified.
- This mutation was absent in control DNA samples.
Implications:
- The identified mutation predicts a truncated, inactive XDH protein.
- This study demonstrates a molecular basis for classical xanthinuria type I.
- Genetic diagnosis of xanthinuria can be achieved through molecular approaches.