| Symbol
| PBD6
|
| Location
| 17q21.1
|
| Name
|
peroxisome biogenesis disorder 6, Zellweger spectrum |
| Other name(s)
|
PGD complementation group 3 |
| Corresponding gene
|
PEX12
|
| Other symbol(s)
| IRD, ZS, ZWS, NALD
|
| Main clinical features
|
the clinical continuum of Zellweger spectrum patients extends from Zellweger syndrome (ZS) as the prototype and the most severe entity of this group to neonatal adrenoleukodystrophy (NALD) as an intermediate form and infantile Refsum (IRD) disease as the least severe variant |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| metabolism/peroxisomal |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| nonsense
|
|
| nonsense/frameshift/aberrant splicing mutations in most case
| |
| Remark(s)
|
peroxisomal biogenesis defects can be divided into two broad clinical spectra: the Zellweger spectrum (80 percent of PBD patients) and rhizomelia chondrodysplasia punctata (RCPD) spectrum |
| Genotype/Phenotype correlations
|
severe clinical phenotype in most patients |