#607678
Table of Contents
Alternative titles; symbols
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).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).
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.
Street et al. (2003) referred to CMT1 caused by mutation in the EGR2 gene as CMT1D.
Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 60: 22-26, 2003. [PubMed: 12525712, related citations] [Full Text]
Warner, L. E., Mancias, P., Butler, I. J., McDonald, C. M., Keppen, L., Koob, K. G., Lupski, J. R. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nature Genet. 18: 382-384, 1998. [PubMed: 9537424, related citations] [Full Text]
Alternative titles; symbols
SNOMEDCT: 719979008; ORPHA: 101084; DO: 0110150;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 10q21.3 | Charcot-Marie-Tooth disease, type 1D | 607678 | Autosomal dominant | 3 | EGR2 | 129010 |
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).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).
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.
Street et al. (2003) referred to CMT1 caused by mutation in the EGR2 gene as CMT1D.
Street, V. A., Bennett, C. L., Goldy, J. D., Shirk, A. J., Kleopa, K. A., Tempel, B. L., Lipe, H. P., Scherer, S. S., Bird, T. D., Chance, P. F. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 60: 22-26, 2003. [PubMed: 12525712] [Full Text: https://doi.org/10.1212/wnl.60.1.22]
Warner, L. E., Mancias, P., Butler, I. J., McDonald, C. M., Keppen, L., Koob, K. G., Lupski, J. R. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nature Genet. 18: 382-384, 1998. [PubMed: 9537424] [Full Text: https://doi.org/10.1038/ng0498-382]
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