Premium
First Japanese case of Zellweger syndrome with a mutation in PEX14
Author(s) -
Komatsuzaki Shoko,
Ogawa Eishin,
Shimozawa Nobuyuki,
Sakamoto Osamu,
Haginoya Kazuhiro,
Uematsu Mitsugu,
Hasegawa Yuki,
Matsubara Yoichi,
Ohura Toshihiro
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12713
Subject(s) - zellweger syndrome , hypotonia , medicine , mutation , peroxisomal disorder , failure to thrive , psychomotor retardation , endocrinology , psychomotor learning , disease , pediatrics , genetics , pathology , gene , peroxisome , biology , psychiatry , receptor , alternative medicine , cognition
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.