[Identification of a novel DGUOK variant in a Chinese family affected with mitochondrial DNA depletion syndrome].

To explore the molecular etiology for a Chinese family with mitochondrial DNA depletion syndrome.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.A novel homozygous frameshift variant c.505_508delTATC was identified in the patient, for which both his mother and father were carriers.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.