Identification of a common PEX1 mutation in Zellweger syndrome.

[neonatal adrenoleukodystrophy]

The Zellweger spectrum of disease , encompassing Zellweger syndrome and the progressively milder phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease , is due to a failure to form functional peroxisomes . Cell fusion complementation studies demonstrated that these diseases are genetically heterogeneous , with two -thirds of all patients lying within a single complementation group , CG 1 . Molecular genetic and cell biology studies have shown that PEX 1 is deficient in many CG 1 patients . However , previous studies have focused on mildly affected patients and there is still no report of two mutant PEX 1 alleles in any Zellweger syndrome patient . Furthermore , mutations in the PMP 70 gene have also been identified in two Zellweger syndrome patients from CG 1 , raising the possibility that CG 1 patients may represent a mixture of PEX 1 -deficient and PMP 70 -deficient individuals . To address the molecular basis of disease in Zellweger syndrome patients from CG 1 , we examined all 24 PEX 1 exons in four patients , including both patients that have mutations in PMP 70 . PEX 1 mutations were detected in all four patients , including a 1 -bp insertion (c .2097 insT ) in exon 13 that was present in three of the four patients . Subsequent studies demonstrated that this mutation is present in one -half of all CG 1 patients and correlates with the Zellweger syndrome phenotype . As this mutation leads to a loss of protein function its frequency makes it the most common cause of Zellweger syndrome , helping to explain the high percentage of patients that belong to CG 1 .

Diseases
Validation

Diseases presenting "pex1 mutations" symptom

neonatal adrenoleukodystrophy

zellweger syndrome

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