title: First Japanese case of Zellweger syndrome with a mutation in PEX14.
abstract: 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.
authors.affiliation: Department of Medical Genetics.|Department of Pediatrics, Tohoku University School of Medicine, Sendai.|Division of Inborn Metabolic Diseases, University Children's Hospital Heidelberg, Heidelberg, Germany.
authors.forename: Shoko
authors.identifier: http://orcid.org/0000-0002-8075-2303
authors.initials: S
authors.lastname: Komatsuzaki
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai.
authors.forename: Eishin
authors.initials: E
authors.lastname: Ogawa
authors.affiliation: Division of Genomics Research, Life Science Research Center, Gifu University, Gifu.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Shimozawa
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai.
authors.forename: Osamu
authors.initials: O
authors.lastname: Sakamoto
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai.
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Uematsu
authors.affiliation: Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Hasegawa
authors.affiliation: Department of Medical Genetics.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Matsubara
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Ohura
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics* / Q000378:metabolism; D015211:Zellweger Syndrome / Q000235:genetics* / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; C455539:PEX14 protein, human; D012097:Repressor Proteins; D004247:DNA
keywords: 3,6-epoxydicarboxylic acid; PEX14; Zellweger syndrome; demyelination; peroxisome biogenesis disorders