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<p>We report the identification of two pathogenic variants in the <i>ABCG2</i> gene, encoding a urate exporter, in two probands (male and female) with severe familial gouty phenotypes and hyperuricemia. Clinico-genetic analyses identified p.I63YfsTer54 (rs565722112) and p.G74D (rs199976573) as potentially causal mutations; functional analyses demonstrated that these two variants are deficient in plasma membrane localization and functionally null. Our data show that dysfunctional variants in the <i>ABCG2</i> gene are strong risk factors for hyperuricemia and gout in both males and females.</p>

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Identification of pathogenic variants in the ABCG2 gene in patients with severe familial hyperuricemia and gout

  • 期刊论文

  • 发表日期：

    2025年3月13日

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  • Yu Toyoda,
  • Katerina Pavelcova,
  • Jana Masinova,
  • Lenka Hasikova,
  • Jakub Zavada,
  • Petra Hanova,
  • Martin Klein,
  • Jiri Vavra,
  • Tappei Takada,
  • Blanka Stiburkova

摘要

We report the identification of two pathogenic variants in the ABCG2 gene, encoding a urate exporter, in two probands (male and female) with severe familial gouty phenotypes and hyperuricemia. Clinico-genetic analyses identified p.I63YfsTer54 (rs565722112) and p.G74D (rs199976573) as potentially causal mutations; functional analyses demonstrated that these two variants are deficient in plasma membrane localization and functionally null. Our data show that dysfunctional variants in the ABCG2 gene are strong risk factors for hyperuricemia and gout in both males and females.