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.

• Leukodystrophy
• mitochondrial complex I
• mutation
• NDUFAF1

Acknowledgements

We thank Dr. Huimin Kong (Department of Pediatrics, Xiangya Hospital, China) for critically reviewing the manuscript and Dr. Peng Yu (MyGenostics Inc. Beijing, China) for genetic analysis.

Declaration of interest

This work was supported by Young Teachers of Central South University Booster Project (2011QNZT152) and The National Natural Science Foundation of China Youth Fund Project (81100846). The authors declare that there is no conflict of interest both for financial support or relationships.