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Abstract
Objective: To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as a variant of Charcot-Marie-Tooth disease (CMT), in a Chinese family.
Methods: We investigated a Chinese family with dHMN clinically, electrophysiologically, and genetically. We screened for the mutations of 28 CMT or related pathogenic genes using an originally designed microarray resequencing DNA chip.
Results: Investigation of the family history revealed an autosomal dominant transmission pattern. The clinical features of the family included mild weakness and wasting of the distal muscles of the lower limb and foot deformity, without clinical sensory involvement. Electrophysiologic studies revealed motor neuropathy. MRI of the lower limbs showed accentuated fatty infiltration of the gastrocnemius and vastus lateralis muscles. All 4 affected family members had a heterozygous missense mutation c.2677G>A (p.D893N) of alanyl-tRNA synthetase (AARS), which was not found in the 4 unaffected members and control subjects.
Conclusion: An AARS mutation caused dHMN in a Chinese family. AARS mutations result in not only a CMT phenotype but also a dHMN phenotype.
GLOSSARY
- AARS=
- alanyl-tRNA synthetase;
- CMT=
- Charcot-Marie-Tooth;
- dHMN=
- distal hereditary motor neuropathy;
- MRC=
- Medical Research Council;
- SCV=
- sensory nerve conduction velocity
Footnotes
Study funding: Supported in part by grants from the Nervous and Mental Disorders and Research Committee for Charcot-Marie-Tooth Disease, Neuropathy, Ataxic Disease and Practical Realization Research for Incurable Disease of the Japanese Ministry of Health, Welfare and Labor (H.T.).
- Received October 18, 2011.
- Accepted January 23, 2012.
- Copyright © 2012 by AAN Enterprises, Inc.
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