Komatsuzaki Shoko, Ogawa Eishin, Shimozawa Nobuyuki, Sakamoto Osamu, Haginoya Kazuhiro, Uematsu Mitsugu, Hasegawa Yuki, Matsubara Yoichi, Ohura Toshihiro
Department of Medical Genetics.
Department of Pediatrics, Tohoku University School of Medicine, Sendai.
Pediatr Int. 2015 Dec;57(6):1189-92. doi: 10.1111/ped.12713. Epub 2015 Dec 2.
Zellweger syndrome, one of the peroxisome biogenesis disorders, is an autosomal recessive disease caused by mutations in PEX genes. It is characterized by severe hypotonia, failure to thrive, psychomotor retardation, liver dysfunction, and sensorineural hearing impairment. Most of the patients with this disease die before the age of 1 year. PEX14 is the 13th PEX gene responsible for peroxisome biogenesis disorders. Thus far, only two patients with PEX14 deficiency have been reported. Here, we report the first case of a Japanese patient with a PEX14 mutation who showed severe hypotonia, psychomotor retardation, demyelination, and developed rickets at the age of 5 months. An increased excretion of 3,6-epoxydicarboxylic acids leads to the diagnosis of Zellweger syndrome and a mutation analysis of PEX14 revealed a homozygous mutation of c.538C>T (p.Q180X). The patient survived for a prolonged period of time but died of liver failure at the age of 46 months.
泽韦格综合征是过氧化物酶体生物发生障碍疾病之一，是一种由PEX基因突变引起的常染色体隐性疾病。其特征为严重肌张力减退、生长发育迟缓、精神运动发育迟缓、肝功能障碍和感觉神经性听力障碍。大多数患有这种疾病的患者在1岁前死亡。PEX14是第13个与过氧化物酶体生物发生障碍相关的PEX基因。迄今为止，仅报道了两例PEX14缺乏症患者。在此，我们报告首例日本PEX14突变患者，该患者在5个月大时出现严重肌张力减退、精神运动发育迟缓、脱髓鞘并患佝偻病。3,6 - 环氧二羧酸排泄增加有助于泽韦格综合征的诊断，对PEX14的突变分析显示存在c.538C>T（p.Q180X）纯合突变。该患者存活了较长时间，但在46个月大时死于肝功能衰竭。
