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: Sung Yoon Cho, Young Pyo Chang, Ji Yun Park, Hyung-Doo Park, Young Bae Sohn, Sung Won Park, Se Hwa Kim, Suntae Ji, Su Jin Kim, Eun Wha Choi, Chi Hwa Kim, Ah-ra Ko, Kyung-Hoon Paik, Dong-Kyu Jin
• Journal: Annals of clinical and laboratory science (Ann Clin Lab Sci) Vol. 41 Issue 2 Pg. 182-7 ( 2011) ISSN: 1550-8080 [Electronic] United States
• PMID: 21844578 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Membrane Proteins
• ATPases Associated with Diverse Cellular Activities
• PEX1 protein, human

Topics

• ATPases Associated with Diverse Cellular Activities
• Female
• Heterozygote
• Humans
• Infant, Newborn
• Male
• Membrane Proteins (genetics)
• Mutation
• Republic of Korea
• Zellweger Syndrome (etiology, genetics)