• Peiqing Yang, Xuenan Pi, Tony N Marion, Jing Wang, Gang Wang, Yan Xie, Dan Xie, and Yi Liu.
• Department of Rheumatology.
• Medicine (Baltimore). 2020 Jun 19; 99 (25): e20057e20057.

IntroductionGout is a worldwide chronic disease generally caused by high serum levels of uric acid. Using whole exome sequencing, we aimed to explore genetic alterations in hereditary gout.Patients' ConcernsThere were 9 direct descendants diagnosed with gout in total in this family. The patients concerned about the high incidence and inheritance of gout.DiagnosisThe youngest propositus was diagnosed as gout in our hospital. Diagnoses of other patients in this family were made on the foundation of history and clinical tests.InterventionsSix direct descendants and 3 healthy spouses in 1 family were recruited in our study. Whole-exome sequencing was conducted in all participants.OutcomesWhole-exome sequencing and genetic analysis revealed 2 putative rare inherited deleterious variants, which were detected only in direct descendants. Twelve gout and uric acid (UC)-related nucleotide sequence variants previously reported by GWAS were detected among all subjects.ConclusionsIn the case of this family, the GWAS identified gout and UC-related nucleotide sequence variants may increase the risk of developing gout, but penetrance was not complete. The rare sequence variants in low-density lipoprotein receptor-related protein 1 (LRP1) and oncoprotein induced transcript 3 (OIT3) may have contributed to inheritance of gout within the 5 generations of family members in this study.

21 keywords...

hide…