Analysis of DNM1L gene variant in a case of fatal encephalopathy caused by mitochondrial peroxidase division deficiency.
10.3760/cma.j.cn511374-20210204-00110
- Author:
Xiaolu CHEN
1
,
2
;
Yang LI
;
Huan LUO
;
Jing GAN
Author Information
1. Department of Pediatrics, West China Second University Hospital, Sichuan University/Key Laboratory of Birth Defects and Related Disease of Women and Children (Sichuan University), Ministry of Education, Sichuan University
2. Key Laboratory of Development and Maternal and Child Diseases of Sichuan Province, Chengdu, Sichuan 610041, China. gordonrachel@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Drug Resistant Epilepsy;
Dynamins;
Genomics;
Humans;
Mitochondria;
Mutation;
Peroxidase;
Seizures
- From:
Chinese Journal of Medical Genetics
2021;38(9):887-890
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical features and disease-causing variants of a pediatric patient with fatal encephalopathy caused by mitochondrial peroxidase division deficiency, to identify the possible genetic causes of the disease and provide a basis for clinical diagnosis.
METHODS:A child with fatal encephalopathy caused by mitochondrial peroxidase division deficiency in West China Second Hospital of Sichuan University was selected. The clinical manifestations, laboratory findings and disease-causing variant were analyzed.
RESULTS:The main clinical symptoms of the patient were fever, headache and vomiting, followed by drug refractory epilepsy and progressive disturbance of consciousness. MRI showed deepening of sulcus, dilatation of bilateral ventricles, and multiple patch-like abnormal signals in paraventricular white matter, semioval center and subcortical white matter of bilateral frontal lobe. Gene detection showed a heterozygous missense variant c.1207C>T(p.Arg403Cys) in DNM1L, according to the American College of Medical Genetics and Genomics classification standards and guidelines for genetic variants, this variant was predicted to be pathogenic(PS1+PS2+PM2+PP3). After treated with gamma globulin, glucocorticoid, "mitochondrial cocktail therapy" and anti-epilepsy drugs, the condition of the patient was getting better, seizure attacks reduced and consciousness level improved.
CONCLUSION:The c.1207C>T variant in DNM1L gene may be the disease-causing variant for the patient, and the result of genetic testing provides a basis for the clinical diagnosis in this case.
