Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Dejerine-Sottas syndrome.

ABSTRACT:

Background

The Charcot-Marie-Tooth (CMT) phenotype caused by mutation in the myelin protein zero (MPZ) gene varies considerably, from early onset and severe forms to late onset and milder forms. The mechanism is not well understood. The myelin protein zero (P0) mediates adhesion in the spiral wraps of the Schwann cell's myelin sheath. The crystalline structure of the extracellular domain of the myelin protein zero (P0ex) is known, while the transmembrane and intracellular structure is unknown.

Findings

One novel missense mutation caused a milder late onset CMT type 2, while the second missense mutation caused a severe early onset phenotype compatible with Déjérine-Sottas syndrome.

Conclusions

The phenotypic variation caused by different missense mutations in the MPZ g

SUBMITTER: Braathen GJ 

PROVIDER: S-EPMC2861067 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature