Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

A number sign (#) is used with this entry because this autosomal dominant form of Charcot-Marie-Tooth disease can be caused by mutation in the early growth response gene-2 (EGR2; 129010). Mutations in the same gene have been identified as the cause of autosomal recessive congenital hypomyelinating neuropathy (605253) and Dejerine-Sottas neuropathy (145900).

Description

For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).

Molecular Genetics

Warner et al. (1998) identified heterozygous mutations in the EGR2 gene (129010.0002) in a family with autosomal dominant Charcot-Marie-Tooth disease type 1.

Nomenclature

Street et al. (2003) referred to CMT1 caused by mutation in the EGR2 gene as CMT1D.