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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease
|
|---|---|
| Published in |
BMC Medical Genomics, September 2015
|
| DOI | 10.1186/s12881-015-0226-6 |
| Pubmed ID | |
| Authors |
Julien Masliah-Planchon, Céline Dupont, George Vartzelis, Aurélien Trimouille, Eléonore Eymard-Pierre, Mathilde Gay-Bellile, Florence Renaldo, Imen Dorboz, Cécile Pagan, Samuel Quentin, Monique Elmaleh, Christina Kotsogianni, Elissavet Konstantelou, Séverine Drunat, Anne-Claude Tabet, Odile Boespflug-Tanguy |
| Abstract |
Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder characterized by nystagmus, hypotonia, ataxia, progressive spasticity, and cognitive decline. PMD classically results from a duplication of a genomic segment encompassing the entire PLP1 gene. Since the PLP1 gene is located in Xq22, PMD affects mostly boys. Here we report the case of a girl with typical PMD. Copy number analysis of the PLP1 locus revealed a duplication of the entire gene and FISH analysis showed that the extra copy of the PLP1 gene was actually inserted in chromosome 1p36. This insertion of an additional copy of PLP1 in an autosome led to a functional duplication irrespective of the X-inactivation pattern. Subsequent overexpression of PLP1 was the cause of the PMD phenotype observed in this girl. Further sequencing of the breakpoint junction revealed a microhomology and thus suggested a replication based mechanism (such as FoSTeS or MMBIR). This case emphasizes the susceptibility of the PLP1 locus to complex rearrangement likely driven by the Xq22 local genomic architecture. In addition, careful consideration should be given to girls with classical PMD clinical features since they usually experience complex PLP1 genomic alteration with a distinct risk of inheritance. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Scientists | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 14 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 29% |
| Student > Bachelor | 2 | 14% |
| Unspecified | 1 | 7% |
| Student > Ph. D. Student | 1 | 7% |
| Student > Doctoral Student | 1 | 7% |
| Other | 2 | 14% |
| Unknown | 3 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 21% |
| Biochemistry, Genetics and Molecular Biology | 1 | 7% |
| Agricultural and Biological Sciences | 1 | 7% |
| Computer Science | 1 | 7% |
| Arts and Humanities | 1 | 7% |
| Other | 4 | 29% |
| Unknown | 3 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 20 October 2015.
All research outputs
#16,046,765
of 25,371,288 outputs
Outputs from BMC Medical Genomics
#1,102
of 2,444 outputs
Outputs of similar age
#147,367
of 277,045 outputs
Outputs of similar age from BMC Medical Genomics
#31
of 68 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. This one is in the 34th percentile – i.e., 34% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has gotten more attention than average, scoring higher than 51% of its peers.
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 277,045 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 68 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 52% of its contemporaries.