[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].
The aim of this study was to investigate the clinical features and DGUOK gene mutations of an infant with mitochondrial DNA depletion syndrome (MDS). The patient (more than 7 months old) manifested as hepatosplenomegaly, abnormal liver function, nystagmus and psychomotor retardation. Genetic DNA was extracted from peripheral blood samples of the patient and her parents. Targeted Exome Sequencing was performed to explore the genetic causes. Sanger sequencing was carried out to confirm the detected mutations. The sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene. The former was a reportedly pathogenic missense mutation of maternal origin, while the latter, a frameshift mutation from the father, has not been described yet. The findings in this study expand the mutation spectrum of DGUOK gene, and provide molecular evidence for the etiologic diagnosis of the patient as well as for the genetic counseling and prenatal diagnosis in the family.
Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China. songyuanzong@vip.tom.com.
Mei
M
Deng
Wei-Xia
WX
Lin
Li
L
Guo
Zhan-Hui
ZH
Zhang
Yuan-Zong
YZ
Song
D005260:Female; D006801:Humans; D007223:Infant; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000737:chemistry / Q000235:genetics*
D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase