title: Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.
abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disorder characterized by neurodegeneration and iron accumulation in the brain. Classic and atypical PKAN are distinguished on the basis of age at onset and disease progression. PANK2, localized on chromosome20p13, is confirmed as the responsible gene. We report two Chinese siblings with atypical PKAN, who had a 26- and 24-year disease course, respectively. Brain MRI scans of the two siblings showed the specific "eye of the tiger" sign. Genetic analysis identified novel compound heterozygous mutations (IVS1-2 A>T, c.T1130C) in PANK2 gene, which were confirmed to be deleterious. We verify the clinical heterogeneity even in siblings with identical genotype and expand the gene mutation pool for PKAN.
authors.affiliation: Laboratory of Neuromuscular Disorders, Department of Neurology, Qilu Hospital, Shandong University, No. 107 of Wenhua West Road, Jinan, People's Republic of China. shanjingli@yahoo.com.cn
authors.forename: Jingli
authors.initials: J
authors.lastname: Shan
authors.forename: Bing
authors.initials: B
authors.lastname: Wen
authors.forename: Jun
authors.initials: J
authors.lastname: Zhu
authors.forename: Pengfei
authors.initials: P
authors.lastname: Lin
authors.forename: Jinfan
authors.initials: J
authors.lastname: Zheng
authors.forename: Chuanzhu
authors.initials: C
authors.lastname: Yan
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D035781:Siblings
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase