Dysmyelinating and demyelinating CMT associated with 2 myelin protein zero gene

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J Appl Genet. 2010 Nov 3

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two

myelin protein zero gene mutations.

Drac H, Kabzi & #324;ska D, Moszy & #324;ska I, Strugalska-Cynowska H,

Hausmanowa-Petrusewicz I, Kocha & #324;ski A.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of

Sciences, Pawi & #324;skiego 5, 02-106, Warsaw, Poland.

Abstract

Mutations in the myelin protein zero (MPZ) gene are the third most frequent

cause of hereditary motor and sensory neuropathies (HMSN), also called

Charcot-Marie-Tooth disorders (CMT). Only in case of recurrent mutations

occurring in the MPZ gene is it possible to draw phenotype-genotype correlations

essential for establishing the prognosis and outcomes of CMT1.

We have surveyed a cohort of 67 Polish patients from CMT families with

demyelinating neuropathy for mutations in the MPZ gene. In this study, we report

two CMT families in which the Ile135Thr and Pro132Leu mutations have been

identified for the MPZ gene. These MPZ gene mutations had not been identified

hitherto in the Polish population.

The Pro132Leu mutation segregates with a severe early-onset

dysmyelinating-hypomyelinating neuropathy, whereas the Ile135Thr substitution is

associated with the classical phenotype of CMT1. To the best of our knowledge,

we present here, for the first time, morphological data obtained in two sural

nerve biopsies pointing to a hypomyelination-dysmyelination process in a family

harboring the Pro132Leu mutation in the MPZ gene.