Dataset Information

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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Publications

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:BackgroundAlström syndrome (AS) is a rare autosomal recessive disorder that leads to multiple organ fibrosis and failure. Precise diagnosis from the clinical symptoms is challenging due to its highly variabilities and its frequent confusion with other ciliopathies and genetic diseases. Currently, mutations in the ALMS1 gene have been reported as a major cause of AS, thus, it is crucial to focus on the detection and discovery of ALMS1 mutations.Case presentationWe present a case of a 13-year-old Chinese boy weighing 70 kg and standing 168 cm tall. He has two younger brothers. Their parents hail from different ancestral homes in eastern and northern China. The patient's primary clinical findings included visual impairment at the age of four and progressive hearing loss starting at the age of ten. Subsequently, at the age of twelve, the patient developed hyperlipidaemia and hyperinsulinemia. Ultrasonographic findings indicated the presence of gallstones and mild fatty liver. His Body Mass Index (BMI) significantly increased to 25 kg/m2 (ref: 18.5-23.9 kg/m2). Additionally, echocardiography revealed mild mitral and tricuspid regurgitation. Ultimately, Whole Exome Sequencing (WES) identified a new missense mutation in the ALMS1 gene (NG_011690.1 (NM_015120): c.9536G > A (p.R3179Q)). This missense mutation generated an aberrant splicer and disrupted the stability and hydrophobicity of proteins, which preliminarily determined as " likely pathogenic". Therefore, considering all the above symptoms and molecular analysis, we deduced that the patient was diagnosed with AS according to the guidelines. We recommended that he continue wearing glasses and undergo an annual physical examination.ConclusionIn this case report, we report a novel homozygous ALMS1 mutation associated with AS in the Chinese population, which expands the mutation spectrum of ALMS1. Genetic testing indeed should be incorporated into the diagnosis of syndromic deafness, as it can help avoid misdiagnoses of AS. While there is no specific treatment for AS, early diagnosis and intervention can alleviate the progression of some symptoms and improve patients' quality of life.

Dataset Information

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

Introduction

Patients' concerns

Diagnosis

Interventions

Outcomes

Conclusions

Publications

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

Similar Datasets

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