Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

AUTOR(ES)

Boerkoel, Cornelius F.

FONTE

The American Society of Human Genetics

RESUMO

The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx−/− mice develop a severe demyelinating peripheral neuropathy, despite apparently normal initial formation of myelin sheaths. We hypothesized that mutations in PRX could cause human peripheral myelinopathies. In accordance with this, we identified three unrelated Dejerine-Sottas neuropathy patients with recessive PRX mutations—two with compound heterozygous nonsense and frameshift mutations, and one with a homozygous frameshift mutation. We mapped PRX to 19q13.13-13.2, a region recently associated with a severe autosomal recessive demyelinating neuropathy in a Lebanese family (Delague et al. 2000) and syntenic to the location of Prx on murine chromosome 7 (Gillespie et al. 1997).

Documentos Relacionados

• Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
• An electron microscopic study of hypertrophic neuropathy of Dejerine and Sottas.
• Exposure at the Cell Surface Is Required for Gas3/PMP22 To Regulate Both Cell Death and Cell Spreading: Implication for the Charcot–Marie–Tooth Type 1A and Dejerine–Sottas Diseases
• Doença de Dejerine Sottas: descrição de um caso
• A FAMILY WITH THE PROGRESSIVE HYPERTROPHIC POLYNEURITIS OF DEJERINE AND SOTTAS