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Novel GNE compound heterozygous mutations in a GNE myopathy patient
Author(s) -
Cai Huaying,
Yabe Ichiro,
Shirai Shinichi,
Nishimura Hiroaki,
Hirotani Makoto,
Kano Takahiro,
Houzen Hideki,
Yoshida Kazuto,
Sasaki Hidenao
Publication year - 2013
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23862
Subject(s) - missense mutation , compound heterozygosity , myopathy , muscle biopsy , gene , mutation , genetics , immunostaining , biology , microbiology and biotechnology , medicine , pathology , biopsy , immunohistochemistry
: 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