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Periaxin mutations cause recessive Dejerine-Sottas neuropathy
C F Boerkoel1, H Takashima, P Stankiewicz
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
American Journal of Human Genetics
|January 3, 2001
Summary
Mutations in the periaxin gene (PRX) cause severe peripheral myelin disorders in humans. This study identified recessive PRX mutations in Dejerine-Sottas neuropathy patients, linking PRX to peripheral myelinopathies.
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- The periaxin gene (PRX) encodes L- and S-periaxin proteins crucial for peripheral nerve myelin maintenance.
- Prx(-/-) mice exhibit severe demyelinating peripheral neuropathy despite normal initial myelin formation.
- Human peripheral myelinopathies may result from PRX gene mutations.
Purpose of the Study:
- To investigate the role of PRX mutations in human peripheral myelinopathies.
- To identify genetic causes of Dejerine-Sottas neuropathy.
Main Methods:
- Genetic analysis of Dejerine-Sottas neuropathy patients.
- Mutation identification in the PRX gene.
- Gene mapping of PRX to chromosome 19q13.13-13.2.
Main Results:
- Three unrelated Dejerine-Sottas neuropathy patients with recessive PRX mutations were identified.
- Identified mutations include compound heterozygous nonsense/frameshift and homozygous frameshift mutations.
- PRX gene mapped to 19q13.13-13.2, a region linked to autosomal recessive demyelinating neuropathy.
Conclusions:
- Recessive PRX mutations are a cause of Dejerine-Sottas neuropathy.
- This finding establishes a link between PRX gene defects and human peripheral myelinopathies.
- PRX is essential for the long-term maintenance of peripheral nerve myelin.