PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP G, INCLUDED
PBD10A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 12, INCLUDED
CG12, INCLUDED
CGG, 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 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see 214100.
Muntau et al. (2000) reported 2 unrelated patients with Zellweger syndrome of complementation group G. The patients were male infants from unrelated consanguineous Dutch and Italian families. One showed marked muscular hypotonia at birth. Dysmorphic features included hypertelorism, ... Muntau et al. (2000) reported 2 unrelated patients with Zellweger syndrome of complementation group G. The patients were male infants from unrelated consanguineous Dutch and Italian families. One showed marked muscular hypotonia at birth. Dysmorphic features included hypertelorism, prominent epicanthic folds, and a high, broad forehead with round face. Seizures developed on day 1 but were controlled with treatment. His condition deteriorated rapidly, with death at age 4 months. The other patient was cyanotic and markedly hypotonic at birth with absent deep tendon reflexes. He had a prominent midface and an antimongoloid slant of the palpebral fissures, ocular hypertelorism, small low-set ears, a prominent nose, and a high-arched palate. The patient died at age 19 days. A brother had been similarly affected and died at age 15 days.
In 2 unrelated patients with Zellweger syndrome of complementation group G, Muntau et al. (2000) identified 2 different homozygous mutations in the PEX3 gene (603164.0001, 603164.0002).