A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies

摘要

Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by a spectrum ofphenotypes, from the classical HNPP course associated with intermittent nerve palsies to a neu-ropathy resembling Charcot-Marie-Tooth type 1 (CMT1) disease. The majority of HNPP cases areassociated with submicroscopical deletions in the 17p11.2-p12 region containing the PMP22 gene,while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, wepresent a patient manifesting with atypical HNPP phenotype associated with a new Thr99fsX110mutation in the PMP22 gene. We conclude that all patients who fulfill the electrophysiologicalcriteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mu-tations in the PMP22 gene.