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Published on: August 15, 2019
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients
Cindy Krause1, Hendrik Rosewich, Melissa Thanos
1Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.
Insights
This study identified novel mutations in PEX genes, including PEX2, PEX6, PEX10, PEX12, and PEX13, in patients with Zellweger syndrome, a severe peroxisomal biogenesis defect.
Area of Science:
- Genetics
- Molecular Biology
- Medical Genetics
Background:
- Peroxisomal biogenesis defects (PBDs) are genetic disorders caused by mutations in PEX genes.
- PBDs manifest in two main clinical spectra: Zellweger spectrum and rhizomelia chondrodysplasia punctata (RCDP) spectrum.
- The Zellweger spectrum includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), with ZS being the most severe.
Purpose of the Study:
- To investigate genetic defects in all known human PEX genes in patients with classical Zellweger syndrome.
- To identify novel mutations contributing to peroxisomal biogenesis disorders.
Main Methods:
- Clinical and biochemical characterization of ten patients with classical ZS.
- Genetic analysis of all known human PEX genes in the identified patients.
Main Results:
- Identification of two novel mutations in PEX2 (PXMP3).
- Identification of two novel mutations in PEX6.
- Identification of two novel mutations in PEX10.
- Identification of one novel mutation in PEX12.
- Identification of one novel mutation in PEX13.
Conclusions:
- Novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 contribute to Zellweger syndrome.
- Genetic analysis of PEX genes is crucial for diagnosing peroxisomal biogenesis defects.
- Further research into PEX gene mutations can enhance understanding and treatment of PBDs.
Abstract:
Mutations in each of the 13 identified human PEX genes are known to cause a peroxisomal biogenesis defect (PBD). Affected patients can be divided into two broad clinical spectra: the Zellweger spectrum, which accounts for about 80% of PBD patients, and the rhizomelia chondrodysplasia punctata (RCDP) spectrum. The clinical continuum of Zellweger spectrum patients extends from Zellweger syndrome (ZS) as the prototype and the most severe entity of this group to neonatal adrenoleukodystrophy (NALD) as an intermediate form and infantile Refsum (IRD) disease as the mildest variant. Characteristic features of ZS patients are dysmorphic features, severe neurological impairment, liver dysfunction, and eye and skeletal abnormalities. Similar but less severe clinical signs are seen in patients with NALD and IRD. In this study ten clinically and/or biochemically well-characterized patients with classical ZS were investigated for defects in all known human PEX genes. We identified two novel mutations in PEX2 (official symbol, PXMP3), two novel mutations in PEX6, two novel mutations in PEX10, one novel mutation in PEX12, and one novel mutation in PEX13.
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