Objective: Our objective was to report 3 patients with ataxia and unusually prolonged survival caused by missense mutations in the Zinc finger region of PEX10.

Background: Peroxisomal biogenesis disorders (PBDs) consist of a heterogeneous group of autosomal recessive diseases in which peroxisome assembly and proliferation are impaired leading to severe multisystem disease and early death. PBDs include Zellweger spectrum disorders (ZSDs) with a relatively mild clinical phenotype caused by PEX2 (MIM# 170993), PEX10 (MIM# 602859), PEX12 (MIM# 601758) mutations.

Methods: Three adult patients are reported belonging to a non-consanguineous French family affected with slowly progressive cerebellar ataxia, axonal neuropathy and pyramidal signs. Mental retardation and diabetes mellitus were optional. The age at onset was in childhood or in adolescence (3-15 years). Brain MRI showed marked cerebellar atrophy. Biochemical blood analyses suggested a mild peroxisomal defect.

Results: With whole exome sequencing, 2 mutations in PEX10 were found in the 3 patients: c.827G>T (novel) causing the missense change p.Cys276Phe and c.932G>A causing the missense change p.Arg311Gln.

Conclusions: The phenotypic spectrum related to PEX10 mutations includes slowly progressive, syndromic recessive ataxia.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/expanding-the-spectrum-of-pex10-related-peroxisomal-biogenesis-disorders-slowly-progressive-recessive-ataxia/