PBD7A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8, INCLUDED
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A, INCLUDED
CGA, INCLUDED
CG8, INCLUDED
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 ... 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 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see 214100.
Matsumoto et al. (2003) studied 4 unrelated patients with Zellweger syndrome. Three were homozygous for mutations and one was a compound heterozygote (see 608666.0002-608666.0004).
Weller et al. (2005) identified patients with Zellweger syndrome and mutations in ... Matsumoto et al. (2003) studied 4 unrelated patients with Zellweger syndrome. Three were homozygous for mutations and one was a compound heterozygote (see 608666.0002-608666.0004). Weller et al. (2005) identified patients with Zellweger syndrome and mutations in the PEX26 gene (608666.0008, 608666.0009).