NA16865
DNA from Fibroblast
Description:
REFSUM DISEASE, INFANTILE 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 Lipid Metabolism |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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 |
20 |
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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 |
608666.0007; REFSUM DISEASE, INFANTILE FORM |
| Identified Mutation |
1-BP INS, 255T; 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 |
Clinically affected; complementation group 8; culture set up from skin biopsy taken from the inner forearm; retinal abnormalities; significant high frequency hearing loss with bilateral hearing aids; reduced peroxisomal plasmalogen synthesis enzymes; elevated very long chain fatty acids, plasma pipecolic acid, phytanic acid, and urinary pipecolic acid; donor subject is a compound heterozygote: one allele has a point mutation of C>T at nucleotide 292 (292C>T) of the PEX26 gene resulting in an arginine to tryptophan change at codon 98 [Arg98Trp (R98W)]; the second allele has a point mutation resulting in a 1 bp insertion at nucleotide 255 in a codon for leucine (G255insT) resulting in a frameshift inducing a 28 amino acid sequence distinct from normal Pex26p |
| 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, 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 |
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