Brazilian CMT 1 Mutation research

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From Neuromuscul Disord. 2004 May;14(5):313-20

A novel stop codon mutation in the PMP22 gene associated with a variable

phenotype.

Abe KT, Lino AM, Hirata MT, Pavanello RC, Brotto MW, Marchiori PE, Zatz

M.

Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto

de Biociencias, Universidade de Sao o, Rua do Matao 277 CEP, Sao

o 05508-900, Brazil.

The most frequent inherited peripheral neuropathy is the peripheral

myelin protein 22 (PMP22) gene related disease. Duplication, deletion,

and point mutations in that gene are associated with phenotypic

variability. Here we report a family carrying a novel mutation in the

PMP22 gene (c. 327C>A), which results in a premature stop codon

(Cys109stop). The family members who carry this mutation have a

Charcot-Marie-Tooth type 1 variable phenotype, ranging from asymptomatic

to severely affected. These findings suggest that the fourth

transmembrane domain of the PMP22 gene may play an important role,

although the intrafamilial clinical variability reinforces the

observation that pathogenic mutations are not always phenotype

determinant and that other factors (genetic or epigenetic) modulate the

severity of the clinical course.