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

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

Author information

1
Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Rua do Matao 277 CEP, São Paulo 05508-900, Brazil.

Abstract

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.

PMID:
15099590
DOI:
10.1016/j.nmd.2004.01.007
[Indexed for MEDLINE]

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