Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

[zellweger syndrome]

Peroxisome biogenesis disorders (PBD ) represent a spectrum of genetic disorders characterized by impaired peroxisome assembly . Zellweger syndrome (ZS ) is the most severe form of PBD and is characterized by craniofacial abnormalities , severe hypotonia , neonatal seizures , ocular abnormalities , psychomotor retardation , hepatomegaly and increased levels of very long chain fatty acids (VLCFA ). The most common mutation associated with the PBD is PEX 1 . Here , the first Korean patient with ZS confirmed by clinical , biochemical , and molecular findings is reported . Two novel mutations of the PEX 1 gene were identified in the patient with ZS . The patient was a compound heterozygote for c .2034 _2035 delCA and c .2845 C >T mutations of the PEX 1 gene . Both mutations are novel findings and were inherited from the patient 's parents . In summary , here the first Korean case of ZS is reported that was confirmed by two novel mutations of the PEX 1 gene .