This work was supported in part by a Grant-in-Aid for Scientific Research from the Ministry of Education, Science, Sports, and Culture, Japan.
Cases of the Month
Novel GNE compound heterozygous mutations in a GNE myopathy patient
Version of Record online: 30 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
Muscle & Nerve
Volume 48, Issue 4, pages 594–598, October 2013
How to Cite
Cai, H., Yabe, I., Shirai, S., Nishimura, H., Hirotani, M., Kano, T., Houzen, H., Yoshida, K. and Sasaki, H. (2013), Novel GNE compound heterozygous mutations in a GNE myopathy patient. Muscle Nerve, 48: 594–598. doi: 10.1002/mus.23862
- Issue online: 23 SEP 2013
- Version of Record online: 30 AUG 2013
- Accepted manuscript online: 5 APR 2013 03:39AM EST
- Manuscript Accepted: 29 MAR 2013
- Scientific Research from the Ministry of Education, Science, Sports, and Culture, Japan.
- distal myopathy with rimmed vacuoles;
- GNE myopathy;
- myofibrillar myopathy;
- UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE);
- Z-band alternatively spliced PDZ motif-containing protein (ZASP)
Introduction: Molecular studies have revealed that some patients with myopathies with rimmed vacuoles have pathogenic mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) and Z-band alternatively spliced PDZ motif-containing protein (ZASP) genes. Methods: We investigated a patient with distal myopathy with rimmed vacuoles by muscle biopsy and sequenced 6 candidate genes. Results: The patient carried GNE compound heterozygous missense mutations (p.V421A and p.N635K) and a ZASP variant (p.D673N). This patient also presented with distal weakness sparing the quadriceps muscles and had atypical results for Z-band-associated protein immunostaining. This finding indicates that the GNE mutations are pathogenic, and the diagnosis is compatible with GNE myopathy. Conclusions: By combining pathological studies and candidate gene screening, we identified a patient with GNE myopathy due to novel GNE compound heterozygous mutations. Muscle Nerve 48: 594–598, 2013