Description:
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
PEROXISOME BIOGENESIS FACTOR 26; PEX26
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| Passage Frozen |
14 |
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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 |
PEX26 |
| Chromosomal Location |
22q11.21 |
| Allelic Variant 1 |
608666.0001; PEROXISOME BIOGENESIS DISORDER 7B; PBD7B |
| Identified Mutation |
ARG98TRP; In a patient with neonatal adrenoleukodystrophy (NALD; 202370), Matsumoto et al. [Am. J. Hum. Genet. 73: 233-246 (2003)] identified a homozygous C-to-T transition at nucleotide 292 of the PEX26 gene, resulting in an arg98-to-trp (R98W) substitution. The mutation rendered PEX26 unstable and less able to participate in PEX6 (601498)-mediated interaction with PEX1 (602136). Transfection of wildtype PEX26 restored peroxisome biogenesis in fibroblasts from this patient. In a patient with infantile Refsum disease (266510), Matsumoto et al. [Am. J. Hum. Genet. 73: 233-246 (2003)] identified compound heterozygosity for 2 mutations in the PEX26 gene: R98W and a 1-bp insertion, 255insT (608666.0007), resulting in a frameshift introducing a distinct 28-amino acid sequence. Functional coexpression studies of the 2 mutations showed temperature-sensitive (30 degrees C) import of catalase and thiolase. |
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| Gene |
PEX26 |
| Chromosomal Location |
22q11.21 |
| Allelic Variant 2 |
608666.0001; PEROXISOME BIOGENESIS DISORDER 7B; PBD7B |
| Identified Mutation |
ARG98TRP; In a patient with neonatal adrenoleukodystrophy (NALD; 202370), Matsumoto et al. [Am. J. Hum. Genet. 73: 233-246 (2003)] identified a homozygous C-to-T transition at nucleotide 292 of the PEX26 gene, resulting in an arg98-to-trp (R98W) substitution. The mutation rendered PEX26 unstable and less able to participate in PEX6 (601498)-mediated interaction with PEX1 (602136). Transfection of wildtype PEX26 restored peroxisome biogenesis in fibroblasts from this patient. In a patient with infantile Refsum disease (266510), Matsumoto et al. [Am. J. Hum. Genet. 73: 233-246 (2003)] identified compound heterozygosity for 2 mutations in the PEX26 gene: R98W and a 1-bp insertion, 255insT (608666.0007), resulting in a frameshift introducing a distinct 28-amino acid sequence. Functional coexpression studies of the 2 mutations showed temperature-sensitive (30 degrees C) import of catalase and thiolase. |
| Remarks |
Complementation group 8; progressive neurologic disorder; C26/22 very long chain fatty acids higher than normal in fibroblasts and plasma; reduced peroxisomal plasmalogen synthesis enzymes in fibroblasts; elevated phytanic acid and pipecolate in plasma; donor subject is homozygous for a C>T transition at nucleotide 292 of the PEX26 gene (292C>T), resulting in an Arg98-to-Trp substitution [Arg98Trp (R98W)] |
| Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould SJ, Valle D, Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis. Am J Hum Genet76(6):987-1007 2005 |
| PubMed ID: 15858711 |
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| Matsumoto N, Tamura S, Fujiki Y, The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to
peroxisomes. Nat Cell Biol5(5):454-60 2003 |
| PubMed ID: 12717447 |
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| Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y, Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet73(2):233-46 2003 |
| PubMed ID: 12851857 |
| Passage Frozen |
14 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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