title: Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.
abstract: Mitochondrial energy metabolism disorder is one of the important reasons of leukodystrophy. Mutations of mitochondrial complex I genes have been implicated in more common neurological disorders such as Leigh syndrome. We describe a case of a child manifested as regression of mental and motor development, aggravated obviously after suffering infection. Physical and auxiliary examinations demonstrated that a series of changes including white matter lesions of magnetic resonance imaging, peripheral neuropathy with high muscle tension and hyperreflexia of limbs pointed to the diagnosis of leukodystrophy, with what can't explain the high levels of lactate and creatine kinase. Spontaneously, genetic analysis covered known leukodystrophy and mitochondrial genes were adapted for this child and his parents. Results showed the child was compound heterozygous mutation (c.278A > G; c.247G > A) within exon 2 in the NDUFAF1 gene, his parents carried a heterozygous mutation each. The authors report a case of leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. This is the first report that NDUFAF1 mutations cause leukodystrophy.
authors: a Department of Pediatrics , Xiangya Hospital, Central South University , Changsha , Hunan , P.R. China.
authors: Liwen
authors: L
authors: Wu
authors: a Department of Pediatrics , Xiangya Hospital, Central South University , Changsha , Hunan , P.R. China.
authors: Jing
authors: J
authors: Peng
authors: a Department of Pediatrics , Xiangya Hospital, Central South University , Changsha , Hunan , P.R. China.
authors: Yuping
authors: Y
authors: Ma
authors: a Department of Pediatrics , Xiangya Hospital, Central South University , Changsha , Hunan , P.R. China.
authors: Fang
authors: F
authors: He
authors: a Department of Pediatrics , Xiangya Hospital, Central South University , Changsha , Hunan , P.R. China.
authors: Xiaolu
authors: X
authors: Deng
authors: a Department of Pediatrics , Xiangya Hospital, Central South University , Changsha , Hunan , P.R. China.
authors: Guoli
authors: G
authors: Wang
authors: a Department of Pediatrics , Xiangya Hospital, Central South University , Changsha , Hunan , P.R. China.
authors: Yang
authors: Y
authors: Lifen
authors: a Department of Pediatrics , Xiangya Hospital, Central South University , Changsha , Hunan , P.R. China.
authors: Fei
authors: F
authors: Yin
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005091:Exons; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D024101:Mitochondrial Proteins / Q000172:deficiency*; D009245:NADH Dehydrogenase / Q000172:deficiency*; D017354:Point Mutation
chemical_list: D024101:Mitochondrial Proteins; D009245:NADH Dehydrogenase; C506342:NDUFAF1 protein, human
keywords: Leukodystrophy; NDUFAF1; mitochondrial complex I; mutation