Description:
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; HALLERVORDEN-SPATZ DISEASE INCLUDED
PANTOTHENATE KINASE 2; PANK2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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AMISH/SWISS
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
PANK2 |
| Chromosomal Location |
20p13-p12.3 |
| Allelic Variant 1 |
606157.0001; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION |
| Identified Mutation |
7-BP DEL, NT627; In an individual with classic pantothenate kinase-associated neurodegeneration (234200), Zhou et al. [Nature Genet. 28: 345-349, (2001)] identified a frameshift mutation in exon 2 in homozygosity. |
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| Gene |
PANK2 |
| Chromosomal Location |
20p13-p12.3 |
| Allelic Variant 2 |
606157.0001; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION |
| Identified Mutation |
7-BP DEL, NT627; In an individual with classic pantothenate kinase-associated neurodegeneration (234200), Zhou et al. [Nature Genet. 28: 345-349, (2001)] identified a frameshift mutation in exon 2 in homozygosity. |
| Remarks |
Clinically affected; Amish of Swiss descent; severe dystonia; pigmentary retinopathy; progression to nonambulation early in the second decade; dysarthria; spasticity and rigidity; donor subject is homozygous for a 7-bp deletion in exon 2 of the PANK2 gene which results in a frameshift. |
| Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ, A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet28(4):345-9 2001 |
| PubMed ID: 11479594 |
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| Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ, Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet14(4):479-81 1996 |
| PubMed ID: 8944032 |
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