| Title |
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy
|
|---|---|
| Published in |
neurogenetics, March 2001
|
| DOI | 10.1007/s100480100107 |
| Pubmed ID | |
| Authors |
Cornelius F. Boerkoel, Hiroshi Takashima, Carlos A. Bacino, Donna Daentl, James R. Lupski |
| Abstract |
Heterozygous mutations in the early growth response gene 2 (EGR2), which encodes a zinc-finger transcription factor that regulates the late stages of myelination, cause myelinopathies including congenital hypomyelinating neuropathy, Dejerine-Sottas neuropathy (DSN), and Charcot-Marie-Tooth disease type 1. We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction protein beta1 gene (GJB1) and identified two DSN patients with the heterozygous mutation R359W in the alpha-helix domain of the first zinc-finger of EGR2. We now report that this mutation is a recurrent cause of DSN, and that expressivity ranges from that typical for DSN to a more rapidly progressive neuropathy that can cause death by age 6 years. Furthermore, in contrast to patients with typical DSN, patients with the EGR2 R359W mutation have more respiratory compromise and cranial nerve involvement. |
Mendeley readers
The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 33 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 7 | 21% |
| Researcher | 6 | 18% |
| Professor | 3 | 9% |
| Student > Doctoral Student | 2 | 6% |
| Unspecified | 2 | 6% |
| Other | 4 | 12% |
| Unknown | 9 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 8 | 24% |
| Biochemistry, Genetics and Molecular Biology | 5 | 15% |
| Medicine and Dentistry | 4 | 12% |
| Neuroscience | 4 | 12% |
| Unspecified | 2 | 6% |
| Other | 2 | 6% |
| Unknown | 8 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 24 May 2022.
All research outputs
#8,535,472
of 25,374,917 outputs
Outputs from neurogenetics
#130
of 389 outputs
Outputs of similar age
#14,197
of 42,288 outputs
Outputs of similar age from neurogenetics
#1
of 3 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 389 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 40th percentile – i.e., 40% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 42,288 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 10th percentile – i.e., 10% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 3 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them