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.

• Keywords
• ABCG2, Gout, Hyperuricemia, Urate transport,
• MeSH
• ATP Binding Cassette Transporter, Subfamily G, Member 2 * genetics   metabolism   MeSH
• Gout * genetics   metabolism   pathology   MeSH
• Hyperuricemia * genetics   metabolism   pathology   MeSH
• Middle Aged MeSH
• Humans MeSH
• Mutation * MeSH
• Neoplasm Proteins * genetics   metabolism   MeSH
• Aged MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH
• Names of Substances
• ATP Binding Cassette Transporter, Subfamily G, Member 2 * MeSH
• ABCG2 protein, human MeSH Browser
• Neoplasm Proteins * MeSH