A novel 3 '-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autos omal dominant, demyelinating peripheral neuropathy. Clinical hallmarks are recurrent painless focal neuropathies mostly preceded by minor trauma or co mpression at entrapment sites of peripheral nerves. In the majority of the patients, HNPP is caused by a 1.5 Mb deletion on chromosome 17p11.2-p12 con taining the peripheral myelin protein 22 (PMP22) gene. Point mutations with in this gene are reported in only a few families. We report a novel mutatio n in the PMP22 gene in a Spanish family with HNPP. The mutation is a 3' spl ice-site mutation, preceding coding exon 3 (c.179-1 G > C), causing a mild HNPP phenotype. (C) 2001 Elsevier Science B.V. All rights reserved.