A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations

IF 3.3 2区医学 Q2 GENETICS & HEREDITY

Human Mutation Pub Date : 2023-07-25 DOI:10.1155/2023/5493978

Ting Zhang, Zinan Yu, Lingwei Hu, Chao Zhang, Haixia Miao, Rulai Yang, Ming Qi, Benqing Wu, Xinwen Huang

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Abstract

Fatty acid oxidation disorders (FAODs) are a group of rare, autosomal recessive, metabolic disorders with clinical symptoms from mild types of fatigue, muscle weakness to severe types of hypoketotic hypoglycemia, (cardio)myopathy, arrhythmia, and rhabdomyolysis, especially during prolonged fasting, exercise, and illness. There are eleven diseases caused by thirteen FAOD genes (SLC22A5, ETFDH, ETFA, ETFB, SLC25A20, ACADS, ACADM, ACADVL, ACAT1, CPT1A, CPT2, HADHA, and HADHB) which are specific enzymes or transport proteins involved in the mitochondrial catabolism of fatty acids. We built the LOVD database for FAODs focused on the Chinese population, in which we recorded all the reported variants by literature peer review. In addition, the unpublished variant data of patients from Zhejiang province were also incorporated into the database. Currently, a total of 538 unique variants have been recorded. We also compared the incidence of high-frequency variants of certain FAOD genes among different populations. The database would provide the guidance for genetic screening of Chinese patients.

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中国人群脂肪酸氧化障碍LOVD综合数据库

脂肪酸氧化障碍（FAOD）是一组罕见的常染色体隐性代谢障碍，其临床症状从轻度疲劳、肌无力到严重的低酮症低血糖、（心脏）肌病、心律失常和横纹肌溶解症，尤其是在长时间禁食、运动和生病期间。有11种疾病是由13个FAOD基因（SLC22A5、ETFDH、ETFA、ETFB、SLC25A20、ACADS、ACADM、ACADVL、ACAT1、CPT1A、CPT2、HADHA和HADHB）引起的，这些基因是参与脂肪酸线粒体分解代谢的特异性酶或转运蛋白。我们建立了针对中国人群的FAOD的LOVD数据库，通过文献同行评审记录了所有报告的变异。此外，浙江省未公布的患者变异数据也被纳入数据库。目前，共记录了538种独特的变体。我们还比较了不同人群中某些FAOD基因高频变异的发生率。该数据库将为中国患者的基因筛查提供指导。

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来源期刊

Human Mutation 医学-遗传学

CiteScore

8.40

自引率

5.10%

发文量

190

审稿时长

2 months

期刊介绍： Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.