Identification of a novel DGUOK variant in a Chinese family affected with mitochondrial DNA depletion syndrome.
10.3760/cma.j.issn.1003-9406.2020.04.011
- Author:
Chengfang JIA
1
;
Wei PENG
;
Xiao YANG
;
Yao YANG
Author Information
1. Department of Endocrinology and Metabolism, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310016, China. yangyao1981@aliyun.com.
- Publication Type:Case Reports
- MeSH:
Asian Continental Ancestry Group;
genetics;
DNA, Mitochondrial;
genetics;
Female;
Frameshift Mutation;
Humans;
Mutation;
Phosphotransferases (Alcohol Group Acceptor);
genetics;
Syndrome
- From:
Chinese Journal of Medical Genetics
2020;37(4):410-414
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular etiology for a Chinese family with mitochondrial DNA depletion syndrome.
METHODS:Genomic DNA was extracted from peripheral blood samples of the patient and her parents.Targeted capture and next-generation sequencing was carried out to detect potential variants. Suspected variant was validated by Sanger sequencing.
RESULTS:A novel homozygous frameshift variant c.505_508delTATC was identified in the patient, for which both his mother and father were carriers.
CONCLUSION:The frameshift variant c.505_508delTATC probably underlies the mitochondrial DNA depletion syndrome in this patient. The result also enriched the variant spectrum of DGUOK gene.
