CMT 1A +HNPP: A newly identified Thr99fsX110 mutation in the PMP22 gene associat

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Acta Biochim Pol. 2009 Oct 15.

A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an

atypical phenotype of the hereditary neuropathy with liability to pressure

palsies.

Moszyñska I, Kabziñska D, Sinkiewicz-Darol E, Kochañski A.

Neuromuscular Unit, Mossakowski Medical Research Centre Polish Academy of

Sciences, Warszawa, Poland.

Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by

a spectrum of phenotypes, from the classical HNPP course associated with

intermittent nerve palsies to a neuropathy resembling Charcot-Marie-Tooth type 1

(CMT1) disease.

The majority of HNPP cases are associated 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, we present a patient manifesting with atypical HNPP phenotype

associated with a new Thr99fsX110 mutation in the PMP22 gene. We conclude that

all patients who fulfill the electrophysiological criteria of HNPP, even if they

lack the typical HNPP phenotype, should be tested for point mutations in the

PMP22 gene/