#607678
Table of Contents
Alternative titles; symbols
A number sign (#) is used with this entry because of evidence that Charcot-Marie-Tooth disease type 1D (CMT1D) is caused by heterozygous 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) reported a family (HOU184) in which the proband, his mother, and his half-sister had Charcot-Marie-Tooth disease type 1. The proband had been diagnosed at age 15 years. His mother had been diagnosed at the age of 37 years, but described her initial symptoms as occurring during her first pregnancy at age 18 years. Nerve conduction velocities were markedly slowed.
The transmission pattern of CMT1D in the family reported by Warner et al. (1998) was consistent with autosomal dominant inheritance.
Warner et al. (1998) identified a heterozygous mutation in the EGR2 gene (129010.0002) in affected members of a family with autosomal dominant Charcot-Marie-Tooth disease type 1.
In a Korean man with CMT1D, Chung et al. (2005) identified a heterozygous mutation in the EGR2 gene (R359W; 129010.0004). His daughter, who had Dejerine-Sottas syndrome (145900), carried both the R359W mutation and a mutation in the GJB2 gene (V136A; 304040.0021).
Street et al. (2003) referred to CMT1 caused by mutation in the EGR2 gene as CMT1D.
Chung, K. W., Sunwoo, I. N., Kim, S. M., Park, K. D., Kim, W.-K., Kim, T. S., Koo, H., Cho, M., Lee, J., Choi, B. O. Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. Neurogenetics 6: 159-163, 2005. [PubMed: 15947997, related citations] [Full Text]
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 of evidence that Charcot-Marie-Tooth disease type 1D (CMT1D) is caused by heterozygous 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) reported a family (HOU184) in which the proband, his mother, and his half-sister had Charcot-Marie-Tooth disease type 1. The proband had been diagnosed at age 15 years. His mother had been diagnosed at the age of 37 years, but described her initial symptoms as occurring during her first pregnancy at age 18 years. Nerve conduction velocities were markedly slowed.
The transmission pattern of CMT1D in the family reported by Warner et al. (1998) was consistent with autosomal dominant inheritance.
Warner et al. (1998) identified a heterozygous mutation in the EGR2 gene (129010.0002) in affected members of a family with autosomal dominant Charcot-Marie-Tooth disease type 1.
In a Korean man with CMT1D, Chung et al. (2005) identified a heterozygous mutation in the EGR2 gene (R359W; 129010.0004). His daughter, who had Dejerine-Sottas syndrome (145900), carried both the R359W mutation and a mutation in the GJB2 gene (V136A; 304040.0021).
Street et al. (2003) referred to CMT1 caused by mutation in the EGR2 gene as CMT1D.
Chung, K. W., Sunwoo, I. N., Kim, S. M., Park, K. D., Kim, W.-K., Kim, T. S., Koo, H., Cho, M., Lee, J., Choi, B. O. Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. Neurogenetics 6: 159-163, 2005. [PubMed: 15947997] [Full Text: https://doi.org/10.1007/s10048-005-0217-4]
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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