RT Journal Article SR Electronic T1 Identification of a novel PEX14 mutation in Zellweger syndrome JF BMJ Case Reports FD BMJ Publishing Group Ltd SP bcr0720080503 DO 10.1136/bcr.07.2008.0503 VO 2009 A1 Sofie J Huybrechts A1 Paul P Van Veldhoven A1 Ilse Hoffman A1 Renate Zeevaert A1 Rita de Vos A1 Philippe Demaerel A1 Marijke Brams A1 Jaak Jaeken A1 Marc Fransen A1 David Cassiman YR 2009 UL http://casereports.bmj.com/content/2009/bcr.07.2008.0503.abstract AB Here we report a patient with Zellweger syndrome, who presented at the age of 3 months with icterus, dystrophy, axial hypotonia, and hepatomegaly. Abnormal findings of metabolic screening tests included hyperbilirubinaemia, hypoketotic dicarboxylic aciduria, increased C26:0 and decreased C22:0 plasma levels, and strongly reduced plasmalogen concentrations. In fibroblasts, both peroxisomal α- and β-oxidation were impaired. Liver histology revealed bile duct paucity, cholestasis, arterial hyperplasia, very small branches of the vena portae, and parenchymatic destruction. Immunocytochemical analysis of cultured fibroblasts demonstrated that the cells contain peroxisomal remnants lacking apparent matrix protein content and PEX14, a central membrane component of the peroxisomal matrix protein import machinery. Transfection of fibroblasts with a plasmid coding for wild-type PEX14 restored peroxisomal matrix protein import. Mutational analysis of this gene revealed a genomic deletion leading to the deletion of exon 3 from the coding DNA (c.85-?_170+?del) and a concomitant change of the reading frame (p.[Ile29_Lys56del;Gly57GlyfsX2]).