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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 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.

SUBMITTER: Yang P

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

REPOSITORIES: biostudies-literature

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

Yang Peiqing P Pi Xuenan X Marion Tony N TN Wang Jing J Wang Gang G Xie Yan Y Xie Dan D Liu Yi Y

Medicine 20200601 25

<h4>Introduction</h4>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.<h4>Patients' concerns</h4>There were 9 direct descendants diagnosed with gout in total in this family. The patients concerned about the high incidence and inheritance of gout.<h4>Diagnosis</h4>The youngest propositus was diagnosed as gout in our hospital. Diagnoses of other patients in this family we ...[more]

PMID: 32569156

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Project description:RationaleCongenital heart disease (CHD) is the most common birth defect and an important cause of noninfectious deaths in infants and children. It has high prevalence globally, placing an enormous burden on society and families. Studies of individuals with hereditary or sporadic CHD have provided strong evidence for its genetic basis. The aim of this study was to identify causative gene variants in a Chinese family with congenital heart disease.Patient concerns and diagnosesThree generations of a CHD family were recruited. Proband III.9 was diagnosed with congenital heart disease at age 11 months, and the echocardiogram showed arterial ductus arteriosus, with a left-to-right shunt at the level of the arteries. Precedent III.10 was a twin of Proband III.9 who was diagnosed with congenital heart disease at age 11 months, in whom the echocardiogram revealed an arterial ductus arteriosus, an unenclosed patent ductus arteriosus, and a left to right shunt at the level of the arteries (second figure). III.8 was diagnosed with congenital heart disease at age 15, but echocardiography in this study showed no abnormalities. No cardiac abnormalities were detected in any of his parents, grandparents, or maternal grandparents. We performed whole-exome sequencing on CHD sufferers and their unexpressing family members to investigate the genetic causes of CHD in this family line. Exome sequencing identified 4 mutation sites in this family line. The variant c.3245A>G (p.His1082Arg) of the AMER1 gene was consistent with concomitant X-chromosome recessive inheritance, the variant c.238G>C (p.Val80Leu) of the KCNE1 gene was consistent with autosomal accessory inheritance, and the other 2 variants did not conform to the law of the mode of inheritance of the disease.OutcomesThe first identified variant, c.3245A>G (p.His1082Arg) of the AMER1 gene, with X-chromosome recessive inheritance, and the variant c.238G>C (p.Val80Leu) of the KCNE1 gene, which has been reported as autosomal dominant, may be the causative agent of CHD in this family line. These findings broaden the genetic scope of congenital heart disease and could help in the development of targeted drugs for the treatment of congenital heart disease.

Dataset Information

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

Publications

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

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