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[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome]

Yuhu Zhang¹, Beisha Tang, Jifeng Guo

¹Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P. R. China. bstang7398@yahoo.com.cn.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics

|March 29, 2005

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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