title: Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
abstract: 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 PEX1. Here, the first Korean patient with ZS confirmed by clinical, biochemical, and molecular findings is reported. Two novel mutations of the PEX1 gene were identified in the patient with ZS. The patient was a compound heterozygote for c.2034_2035delCA and c.2845C>T mutations of the PEX1 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 PEX1 gene.
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul, Korea.
authors.forename: Sung Yoon
authors.initials: SY
authors.lastname: Cho
authors.forename: Young Pyo
authors.initials: YP
authors.lastname: Chang
authors.forename: Ji Yun
authors.initials: JY
authors.lastname: Park
authors.forename: Hyung-Doo
authors.initials: HD
authors.lastname: Park
authors.forename: Young Bae
authors.initials: YB
authors.lastname: Sohn
authors.forename: Sung Won
authors.initials: SW
authors.lastname: Park
authors.forename: Se Hwa
authors.initials: SH
authors.lastname: Kim
authors.forename: Suntae
authors.initials: S
authors.lastname: Ji
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Kim
authors.forename: Eun Wha
authors.initials: EW
authors.lastname: Choi
authors.forename: Chi Hwa
authors.initials: CH
authors.lastname: Kim
authors.forename: Ah-ra
authors.initials: AR
authors.lastname: Ko
authors.forename: Kyung-Hoon
authors.initials: KH
authors.lastname: Paik
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D056910:Republic of Korea; D015211:Zellweger Syndrome / Q000209:etiology* / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D000074183:ATPases Associated with Diverse Cellular Activities; C111808:PEX1 protein, human