NA17398
DNA from Fibroblast
Description:
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A
PEROXISOME BIOGENESIS FACTOR 26; PEX26
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
Hispanic/Latino
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
15 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
PEX26 |
| Chromosomal Location |
22q11.21 |
| Allelic Variant 1 |
608666.0008; ZELLWEGER SYNDROME |
| Identified Mutation |
IVS2+1,G>T |
| |
| Gene |
PEX26 |
| Chromosomal Location |
22q11.21 |
| Allelic Variant 2 |
608666.0008; ZELLWEGER SYNDROME |
| Identified Mutation |
IVS2+1,G>T |
| Remarks |
Clinically affected; skin biopsy taken from inner forearm; complementation group 8; hypotonic with no deep tendon refexes; prominent anterior fontanel; seizure disorder; hepatomegaly; gastroesophageal reflux with pyloric stenosis; died at 9 months of age; deficient peroxisomal plasmalogen synthesis enzymes; amounts of c26:0 and c26:1 and the c26:0/c22:0 ratio are much higher than normal; phytanic acid oxidase is less than half of 1% of normal; donor subject is homozygous for a mutation in the splice-donor site of intron 2 in the PEX26 gene [c.230 +1,G>T (IVS2+1,G>T)], which leads to a frameshift at codon 77 and premature termination (T77fs139X) |
| Miyamoto T, Hosoba K, Itabashi T, Iwane AH, Akutsu SN, Ochiai H, Saito Y, Yamamoto T, Matsuura S, Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome The EMBO journal:e103499 2019 |
| PubMed ID: 32368833 |
| |
| 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 |
|