Other entities represented in this entry:
ORPHA: 79189, 912; DO: 0080483;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 11p11.2 | Peroxisome biogenesis disorder 8A (Zellweger) | 614876 | Autosomal recessive | 3 | PEX16 | 603360 |
A number sign (#) is used with this entry because this form of Zellweger syndrome (PBD8A) is caused by homozygous mutation in the PEX16 gene (603360) on chromosome 11p11.
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 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see 214100.
Honsho et al. (1998) analyzed a cell line (GM06231) from a patient with Zellweger syndrome of complementation group D obtained from the NIGMS Human Genetic Mutant Cell Repository. The catalog of the NIGMS Repository stated that the patient (cell line GM06231) was a 1-month-old white female with consanguineous parents, a similarly affected sib, muscle hypotonia, craniofacial dysmorphia, ventricular septal defect, glossoptosis, cataracts, hepatomegaly with jaundice and elevated SGOT and SGPT, and elevated CSF protein.
Shimozawa et al. (2002) stated that the 2 complementation group D patients analyzed for mutations by them had typical features of Zellweger syndrome.
In a cell line from a patient with Zellweger syndrome, Honsho et al. (1998) identified a homozygous nonsense mutation in the PEX16 gene (603360.0001).
Shimozawa et al. (2002) identified a homozygous splice site mutation in 2 complementation group D Zellweger syndrome patients (603360.0002).
Honsho, M., Tamura, S., Shimozawa, N., Suzuki, Y., Kondo, N., Fujiki, Y. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. Am. J. Hum. Genet. 63: 1622-1630, 1998. [PubMed: 9837814] [Full Text: https://doi.org/10.1086/302161]
Shimozawa, N., Nagase, T., Takemoto, Y., Suzuki, Y., Fujiki, Y., Wanders, R. J. A., Kondo, N. A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome. Biochem. Biophys. Res. Commun. 292: 109-112, 2002. [PubMed: 11890679] [Full Text: https://doi.org/10.1006/bbrc.2002.6642]
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]