Central core disease (CCD) is a genetically heterogeneous congenital myopathy, and ryanodine receptor 1 (RYR1, gene ID6261) is the only pathogenicity gene until now. Data on mutation characteristics of RYR1 in the Chinese CCD population are scarce. This study searched for mutations in the C-terminal-encoding domain of RYR1 in six Chinese patients with CCD, and identified five missense mutations (N4807F, R4861H, R4893P, G4897D, and I4898T). Among them, N4807F, G4897D were novel while R4861H, R4893P, and I4898T were previously reported. All missense mutations were highly conserved across the species of human, mouse, rabbit, fish, and pig. This study found that mutations could be identified in about 85% CCD patients, even if only the C-terminal-encoding region of RYR1 was screened. Many mutations clustered in exons 100-102.
Keywords: Central core disease (CCD); Congenital myopathy (CM); Malignant hyperthermia susceptibility (MHS); Ryanodine receptor1 (RYR1).
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