Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>PANK2 gene mutations can cause HSS in Chinese patients.</p>