CG7, INCLUDED
CGB, INCLUDED
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP B, INCLUDED
PBD6A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 7, 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 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 ... 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.
In a patient with Zellweger syndrome of complementation group 7, Warren et al. (1998) found homozygosity for a splice donor-site mutation in the PEX10 gene (602859.0001).
In cells from a patient with Zellweger syndrome of complementation ... In a patient with Zellweger syndrome of complementation group 7, Warren et al. (1998) found homozygosity for a splice donor-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.