Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing.

通过全外显子组测序鉴定中国单基因糖尿病综合征患者 ALMS1 的新突变。

• 发表时间: Dec 2022
• 来源期刊: Niger J Clin Pract
• DOI: 10.4103/njcp.njcp_544_22
• PMID: 36537469
• 文章类型: Case Reports
• 作者列表: Zhong M,Huang LN,Zhang SJ,Yan SJ

关键词: Alstrom syndrome; diabetes mellitus; monogenic diabetes; whole-exome sequencing

Mesh: Humans; Cell Cycle Proteins / genetics; Exome Sequencing; East Asian People; Alstrom Syndrome / genetics; Diabetes Mellitus; Mutation

Abstract

Alstrom syndrome (AS) is one type of monogenic diabetic syndromes caused by mutation in the ALMS1. Due to rare prevalence and overlaps of clinical symptoms, monogenic diabetes is often misdiagnosed. Here, we report a Chinese diabetes patient with poor blood glucose control and insulin resistance. With whole-exome sequencing (WES), this patient was classified into monogenic diabetes and diagnosed as AS with one novel gene mutation identified. This study highlights the clinical application of WES in the diagnosis of monogenic diabetes.

摘要

Alstrom综合征（AS）是由ALMS1突变引起的一种单基因糖尿病综合征。由于罕见的患病率和临床症状的重叠，单基因糖尿病常被误诊。这里,我们报道了1例血糖控制不佳和胰岛素抵抗的中国糖尿病患者。通过全外显子组测序（WES），该患者被分类为单基因糖尿病,并诊断为AS,发现了一个新的基因突变.本研究强调了WES在单基因糖尿病诊断中的临床应用。