The peroxisomal biogenesis disorder (PBD) 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 ... The peroxisomal biogenesis disorder (PBD) 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 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see 214100.
Chang et al. (1997) found that PEX12 expression restored peroxisomal protein import in fibroblasts from PBD patients of complementation group 3 (CG3) and identified frameshift mutations in PEX12 in 2 unrelated CG3 patients (e.g., 601758.0001).
Okumoto ... Chang et al. (1997) found that PEX12 expression restored peroxisomal protein import in fibroblasts from PBD patients of complementation group 3 (CG3) and identified frameshift mutations in PEX12 in 2 unrelated CG3 patients (e.g., 601758.0001). Okumoto and Fujiki (1997) identified a homozygous nonsense mutation in cells from a patient with Zellweger syndrome of complementation group 3 (601758.0004). In 2 unrelated patients with Zellweger syndrome of complementation group 3, Okumoto et al. (1998) identified distinct homozygous inactivating mutations in the PEX12 gene (e.g., 601758.0005).