Novel mutations in GNE gene in Chinese patients with Nonaka myopathy

Objectives To search for mutations in GNE gene in Chinese patients with Nonaka myopathy. Methods Two patients from two unrelated families with typical clinical and pathological features of Nonaka myopathy were studied. All of the 11 coding exons and their flanking intron sequences of GNE gene were amplified by PCR and sequenced. Additionally ,seven members of three consecutive generations in case 1 family were also examined for the GNE gene mutations. Results The two patients were identified to have different GNE gene mutations: case 1 having a homozygous point mutation of 1525C→T that resulted in homozygous amino acid substitutions of H509Y;case 2 carrying compound heterozygous point mutations of 527A→T and 1714G→C which caused heterozygous amino acid changes of D176V and V572L,respectively. H509Y was a novel mutation not reported previously. In the family of case 1,his father,mother,sister and son were disease carriers and harbored the same heterozygous mutation with the proband. Conclusions Homozygous missense and compound heterozygous missense mutations in GNE gene are found in Chinese patients with Nonaka myopathy. H509Y might be a novel mutation.