ORPHA: 44, 772, 912; DO: 0081440;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 6q24.2 | ?Peroxisome biogenesis disorder 10B | 617370 | Autosomal recessive | 3 | PEX3 | 603164 |
A number sign (#) is used with this entry because of evidence that peroxisome biogenesis disorder-10B (PBD10B) is caused by compound heterozygous mutation in the PEX3 gene (603164) on chromosome 6q24. One such patient has been reported.
For a discussion of genetic heterogeneity of the milder forms of PBD, see PBD1 (601539).
Maxit et al. (2017) reported a 9-year-old boy with a moderately severe peroxisomal biogenesis disorder. He had neonatal jaundice that resolved spontaneously. Dysmorphic features included high forehead, posteriorly rotated and low-set ears, and inverted nipples. He had delayed psychomotor development with axial hypotonia that progressed to severe spastic paraparesis with hyperreflexia by age 4 years. He had 2 isolated seizure-like episodes that were well-controlled. Other features included nephrocalcinosis, neurogenic bladder, nystagmus, and cataracts. Laboratory studies showed mild biochemical abnormalities consistent with a peroxisomal disorder, including increased levels of very long-chain fatty acids.
The transmission pattern of PBD10B in the family reported by Maxit et al. (2017) was consistent with autosomal recessive inheritance.
In a 9-year-old boy with PBD10B, Maxit et al. (2017) identified compound heterozygous mutations in the PEX3 gene (R300X, 603164.0003 and G331R, 603164.0004). Each unaffected parent was heterozygous for 1 of the mutations. Functional studies of the variants were not performed. Patient cells showed a mosaic pattern of catalase-positive particles and peroxisomal membrane structures, consistent with the milder clinical phenotype.
Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R. Novel PEX3 gene mutations resulting in a moderate Zellweger spectrum disorder. JIMD Rep. 34: 71-75, 2017. [PubMed: 27557811] [Full Text: https://doi.org/10.1007/8904_2016_10]