Other entities represented in this entry:
ORPHA: 79189, 912; DO: 0080481;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1p36.32 | Peroxisome biogenesis disorder 6A (Zellweger) | 614870 | Autosomal recessive | 3 | PEX10 | 602859 |
A number sign (#) is used with this entry because this form of Zellweger syndrome (PBD6A) is caused by homozygous or compound heterozygous mutation in the PEX10 gene (602859) on chromosome 1p36.
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).
For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100.
Individuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see 214100.
Nakai et al. (1995) described findings on MRI of the brain from a patient whose cells were shown to belong to complementation group B (complementation group 7 in the American nomenclature). The MRI showed marked colpocephaly, pachygyria in the perisylvian regions, and mild impairment of myelination in the pachygyric area. The girl required ventilatory support from age 5 months and she died at age 7 months.
Krause et al. (2006) described a Turkish male infant (PBD-HR7) with rapidly progressive Zellweger syndrome. The infant had hypotonia, seizures, renal cysts, and dysmorphic features, including a broad nasal bridge, external ear deformity, and 'sickle foot.' He died at 4 days of age.
In a patient with Zellweger syndrome of complementation group 7, Warren et al. (1998) found homozygosity for a donor splice site mutation in the PEX10 gene (602859.0001).
In cells from a patient with Zellweger syndrome of complementation group 7, Okumoto et al. (1998) found homozygosity for a 2-bp deletion in the PEX10 gene (602859.0004).
Warren et al. (2000) identified compound heterozygosity for PEX10 mutations (602859.0005, 602859.0006) in a patient with Zellweger syndrome.
In a child (PBD-HR7) with rapidly progressive Zellweger syndrome, Krause et al. (2006) identified a homozygous nonsense mutation in the PEX10 gene (602859.0012).
Krause, C., Rosewich, H., Thanos, M., Gartner, J. Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. Hum. Mutat. 27: 1157, 2006. Note: Electronic Article. [PubMed: 17041890] [Full Text: https://doi.org/10.1002/humu.9462]
Nakai, A., Shigematsu, Y., Nishida, K., Kikawa, Y., Konishi, Y. MRI findings of Zellweger syndrome. Pediat. Neurol. 13: 346-348, 1995. [PubMed: 8771174] [Full Text: https://doi.org/10.1016/0887-8994(95)00215-4]
Okumoto, K., Itoh, R., Shimozawa, N., Suzuki, Y., Tamura, S., Kondo, N., Fujiki, Y. Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. Hum. Molec. Genet. 7: 1399-1405, 1998. [PubMed: 9700193] [Full Text: https://doi.org/10.1093/hmg/7.9.1399]
Steinberg, S. J., Dodt, G., Raymond, G. V., Braverman, N. E., Moser, A. B., Moser, H. W. Peroxisome biogenesis disorders. Biochim. Biophys. Acta 1763: 1733-1748, 2006. [PubMed: 17055079] [Full Text: https://doi.org/10.1016/j.bbamcr.2006.09.010]
Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D., Gould, S. J. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. Am. J. Hum. Genet. 63: 347-359, 1998. [PubMed: 9683594] [Full Text: https://doi.org/10.1086/301963]
Warren, D. S., Wolfe, B. D., Gould, S. J. Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. Hum. Mutat. 15: 509-521, 2000. [PubMed: 10862081] [Full Text: https://doi.org/10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#]