Novel GNE compound heterozygous mutations in a GNE myopathy patient
Copyright policy )Novel GNE compound heterozygous mutations in a GNE myopathy patient
ABSTRACTIntroduction: 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
- Hokkaido Bunkyo University Japan
- Hokkaido University Japan
Genetic Carrier Screening, Mutation, Missense, LIM Domain Proteins, Middle Aged, Muscular Diseases, Multienzyme Complexes, Vacuoles, Humans, Female, Muscle, Skeletal, Adaptor Proteins, Signal Transducing
Genetic Carrier Screening, Mutation, Missense, LIM Domain Proteins, Middle Aged, Muscular Diseases, Multienzyme Complexes, Vacuoles, Humans, Female, Muscle, Skeletal, Adaptor Proteins, Signal Transducing
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