Cho Sung Yoon, Chang Young Pyo, Park Ji Yun, Park Hyung-Doo, Sohn Young Bae, Park Sung Won, Kim Se Hwa, Ji Suntae, Kim Su Jin, Choi Eun Wha, Kim Chi Hwa, Ko Ah-ra, Paik Kyung-Hoon, Jin Dong-Kyu
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul, Korea.
Ann Clin Lab Sci. 2011 Spring;41(2):182-7.
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.
过氧化物酶体生物发生障碍（PBD）是一系列以过氧化物酶体组装受损为特征的遗传性疾病。泽尔韦格综合征（ZS）是PBD最严重的形式，其特征为颅面异常、严重肌张力减退、新生儿惊厥、眼部异常、精神运动发育迟缓、肝肿大以及极长链脂肪酸（VLCFA）水平升高。与PBD相关的最常见突变是PEX1。本文报道了首例经临床、生化和分子检查确诊的韩国ZS患者。在该ZS患者中鉴定出PEX1基因的两个新突变。该患者是PEX1基因c.2034_2035delCA和c.2845C>T突变的复合杂合子。这两个突变均为新发现，且均遗传自患者的父母。总之，本文报道了首例经PEX1基因两个新突变确诊的韩国ZS病例。
