title: Novel RYR1 missense mutations in six Chinese patients with central core disease.
abstract: 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.
authors.affiliation: Department of Neurology, The General Hospital of Chinese Armed Police Forces, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Gu
authors.affiliation: Department of Neurology, The General Hospital of Chinese Armed Police Forces, China.
authors.forename: Shu
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Department of Neurology, The Third Affiliated Hospital of Hebei Medical University, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Hu
authors.affiliation: Department of Neurology, Peking University First Hospital, China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
authors.affiliation: Department of Neurology, Peking University First Hospital, China.
authors.forename: Zhaoxia
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Neurology, Xuanwu Hospital of the Capital Medical University, The General Hospital of Chinese Armed Police Forces, China.
authors.forename: Yuwei
authors.initials: Y
authors.lastname: Da
authors.affiliation: Department of Neurology, The General Hospital of Chinese Armed Police Forces, China. Electronic address: neurowu@gmail.com.
authors.forename: Shiwen
authors.initials: S
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D002675:Child, Preschool; D002681:China; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D005810:Multigene Family; D020125:Mutation, Missense; D020512:Myopathy, Central Core / Q000208:ethnology / Q000235:genetics*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D055815:Young Adult
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel
keywords: Central core disease (CCD); Congenital myopathy (CM); Malignant hyperthermia susceptibility (MHS); Ryanodine receptor1 (RYR1)