Gout inheritance in an extended Chinese family analyzed by whole-exome sequencing: A case-report.

ABSTRACT:

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 putativ

SUBMITTER: Yang P 

PROVIDER: S-EPMC7310917 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature