RESUMEN
@#A 32-year-old male with pantothenate kinase-associated neurodegeneration (PKAN) disease who had two heterozygous mutations in the PANK2 gene presented with dystonic storm. The MRI T2WI showed the “eye of the tiger” sign, which combined the abnormal low signal in the globus pallidus due to accumulation of iron and the longitudinal strip of high signal due to gliosis. The patient underwent bilateral globus pallidus internus deep brain stimulation (GPi-DBS) implantation surgery under general anesthesia with marked improvement. Genetic test showed c.1550T>G and c.377G>C heterozygous mutations in the PANK2 gene. To our knowledge, this is the first report of a PKAN patient with the novel mutations in the PANK2 gene.
RESUMEN
<p><b>OBJECTIVE</b>To identify a novel HLA allele in Chinese population.</p><p><b>METHODS</b>A new HLA-B allele was initially detected by an usual PCR-SSP and PCR-SSOP in routine typing HLA allele. Sequence-based typing (SBT) was used to identify and analysis the difference between the new allele and HLA-B 4409 allele.</p><p><b>RESULTS</b>The HLA-B exon 3 nucleotide sequence of the novel allele was different from all other known alleles. The allele had 3 nucleotides replaced of the closest matching B 4409 allele at nt538(G>C), nt539(A>T) and nt540 (C>G) in exon 3, resulting in an amino acid change from D(GAC) to L(CTG) at codon 180.</p><p><b>CONCLUSION</b>A novel HLA allele was confirmed by the SBT and it was officially designated as HLA-B 4446 by WHO Nomenclature Committee for Factors of the HLA System in September,2005.</p>