Eggermann Thomas, Spengler Sabrina, Denecke Bernd, Zerres Klaus, Mache Christoph J
Institute of Human Genetics, University Hospital, RWTH Aachen, Germany.
Clin Nephrol. 2013 Jan;79(1):78-80. doi: 10.5414/cn106994.
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.
I型黄嘌呤尿症由黄嘌呤脱氢酶基因（XDH）突变引起。我们报告了一名患有黄嘌呤尿症的患者。通过测序和微阵列分型对基因组DNA进行筛选，以检测XDH基因中的点突变和失衡情况。我们鉴定出XDH基因中一个多外显子缺失的纯合性；在这种疾病中尚未报道过大的基因组失衡情况。正如我们的病例以及其他关于肾脏疾病基因改变的研究所显示的，大的缺失（和重复）对这些疾病的病因有显著影响，因此在基因检测方法中应包括发现这些失衡的特定检测方法。
