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J Child Neurol. 2012 Dec;27(12):1589-92. doi: 10.1177/0883073811435918. Epub 2012 Feb 28.

Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.

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Siouxland Medical Education Foundation-University of Iowa, Sioux City, IA 51104, USA.


Zellweger syndrome (cerebrohepatorenal syndrome) is very rare and is the most severe form of peroxisomal biogenesis disorders. These can be caused by mutations in any of the currently known Peroxin genes and typically present in the neonatal period with multiorgan involvement. Patients usually do not survive beyond 1 year of age. This article reports a case of Zellweger syndrome in a male Native American infant confirmed by clinical findings, imaging studies, and biochemical analysis. Genetic studies show a novel mutation (c.3030G>T, p. Glutamine1010Histidine) altering the last nucleotide of exon 19 in the Peroxin1 (PEX1) gene.

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