title: [Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].
abstract: OBJECTIVE
  To study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS).
  
  
  METHODS
  PANK2 gene mutations were detected by PCR, DNA sequence analyses, restriction enzyme digestion and PCR-single strand conformation polymorphism in 5 patients, 3 unaffected family members and 51 unrelated healthy persons.
  
  
  RESULTS
  Novel compound heterozygous PANK2 gene mutations, A803G and T1172A, in exons 3 and 5, respectively, were found in one patient. At the same time, 3 types of single nucleotide polymorphisms, -38 t>a in 5'-UTR, IVS1+42 c>a and G77C in exon 1, were confirmed; among them, -38 t>a, IVS1+42 c>a, were first reported.
  
  
  CONCLUSIONS
  PANK2 gene mutations can cause HSS in Chinese patients.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P. R. China. bstang7398@yahoo.com.cn.
authors.forename: Yuhu
authors.initials: Y
authors.lastname: Zhang
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.forename: Jifeng
authors.initials: J
authors.lastname: Guo
authors.forename: Zhigao
authors.initials: Z
authors.lastname: Long
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.forename: Dingwen
authors.initials: D
authors.lastname: Wu
authors.forename: Jianguang
authors.initials: J
authors.lastname: Tang
authors.forename: Tao
authors.initials: T
authors.lastname: Chen
authors.forename: Xinxiang
authors.initials: X
authors.lastname: Yan
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D055815:Young Adult
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase