Mitochondrial ND5 as the causative gene of Leight syndrome.
- Author:
Kang WANG
1
;
Chuan-zhu YAN
;
Guo-xiang WANG
;
Jing-song JIAO
;
Miao JIN
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Child, Preschool; DNA, Mitochondrial; genetics; Electron Transport Complex I; genetics; Female; Humans; Infant; Leigh Disease; diagnostic imaging; genetics; pathology; physiopathology; Magnetic Resonance Imaging; Male; Mitochondrial Proteins; genetics; Polymorphism, Single Nucleotide; genetics; Tomography, X-Ray Computed
- From: Chinese Journal of Medical Genetics 2010;27(6):616-619
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo report a Chinese Han family with two patients of Leigh syndrome (LS) and to scan the mutation in mitochondrial DNA(mtDNA).
METHODSThe clinical features and the laboratory findings were summarized. Mitochondrial DNA chip and direct sequencing were performed to detect the mutation in entire mtDNA.
RESULTSFailure of thrive, psychomotor retardation, hypotonia and weakness, cerebellar ataxia, and seizure were the main manifestations of the family. Brain magnetic resonance imaging (MRI) showed lesions at midbrain, periaqueductal gray matter, dentate nuclei of cerebellar and thalami. The levels of lactic acid and pyruvate were mildly abnormal. The mutation of ND5*13513 G to A was identified in the LS family.
CONCLUSIONPatients with ND5*13513 G to A mutation may have a characteristic clinical course and ND5 *13513 G to A might be a preferential candidate mutation of Leigh syndrome.
