[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].
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.
Zhang
Yuhu
Y
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P. R. China. bstang7398@yahoo.com.cn.
Tang
Beisha
B
Guo
Jifeng
J
Long
Zhigao
Z
Xia
Kun
K
Pan
Qian
Q
Hu
Zhengmao
Z
Wu
Dingwen
D
Tang
Jianguang
J
Chen
Tao
T
Yan
Xinxiang
X
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
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase