Seminario CIPF Genetics of novel forms of hereditary recurrent

Seminario CIPF Genetics of novel forms of hereditary recurrent

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Seminario CIPF
Genetics of novel forms of hereditary recurrent neuropathies
Speaker: Eduardo Calpena
Unit of Genetics and Genomics of Neuromuscular Disorders
Rare & Genetic Diseases Program
Date: 13/02/2015 - 13h
Place: Salón de Actos CIPF
Abstract:
Inherited peripheral neuropathies that are recurrent and from which affected individuals make
full or partial degrees of recovery are unusual. Two main disorders with characterized
molecular bases belong to this group of neuropathies: hereditary neuropathy with liability to
pressure palsies (HNPP) due to the deletion of the PMP22 gene or mutations in this same
gene, and hereditary neuralgic amyotrophy (HNA) caused by mutations in the SEPT9 gene. We
have studied two large families presenting a hereditary recurrent neuropathy without
pathological changes in either PMP22 or SEPT9 genes. We have identified new loci not
previously related to neuropathies by genome-wide mapping and linkage analysis. The
constructed haplotypes for markers belonging to the mapped regions fully segregates with the
disease in each family. Our findings suggest novel genetic loci for recurrent inherited
neuropathies and highlight the genetic and clinical heterogeneity associated with this group of
disorders.
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