Medicine · 2020
Gout inheritance in an extended Chinese family analyzed by whole-exome sequencing: A case-report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Yang Peiqing, Pi Xuenan, Marion Tony N, Wang Jing, Wang Gang, Xie Yan, Xie Dan, Liu Yi
Аннотация
INTRODUCTION: Gout 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' CONCERNS: There were 9 direct descendants diagnosed with gout in total in this family. The patients concerned about the high incidence and inheritance of gout.
DIAGNOSIS: The 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.
INTERVENTIONS: Six direct descendants and 3 healthy spouses in 1 family were recruited in our study. Whole-exome sequencing was conducted in all participants.
OUTCOMES: Whole-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.
CONCLUSIONS: In 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.
PATIENTS' CONCERNS: There were 9 direct descendants diagnosed with gout in total in this family. The patients concerned about the high incidence and inheritance of gout.
DIAGNOSIS: The 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.
INTERVENTIONS: Six direct descendants and 3 healthy spouses in 1 family were recruited in our study. Whole-exome sequencing was conducted in all participants.
OUTCOMES: Whole-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.
CONCLUSIONS: In 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.