Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration
| Autor: | Pengfei Lin, Jinfan Zheng, Chuanzhu Yan, Jingli Shan, Bing Wen, Jun Zhu |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male DNA Mutational Analysis Dermatology Gene mutation Biology Compound heterozygosity Genetic analysis Pantothenate kinase-associated neurodegeneration Asian People Genotype medicine Humans Gene Pantothenate Kinase-Associated Neurodegeneration Genetics Siblings Neurodegeneration Brain General Medicine PANK2 medicine.disease Magnetic Resonance Imaging Phosphotransferases (Alcohol Group Acceptor) Psychiatry and Mental health Mutation Female Neurology (clinical) |
| Zdroj: | Neurological Sciences. 34:561-563 |
| ISSN: | 1590-3478 1590-1874 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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