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  • Title: [Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].
    Author: Zhang Y, Tang B, Guo J, Long Z, Xia K, Pan Q, Hu Z, Wu D, Tang J, Chen T, Yan X.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):189-91. PubMed ID: 15793782.
    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. CONCLUSION: PANK2 gene mutations can cause HSS in Chinese patients.
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