| Title |
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta
|
|---|---|
| Published in |
Osteoporosis International, April 2017
|
| DOI | 10.1007/s00198-017-4031-2 |
| Pubmed ID | |
| Authors |
G. Bardai, L. M. Ward, P. Trejo, P. Moffatt, F. H. Glorieux, F. Rauch |
| Abstract |
In 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes. In children who have mild bone fragility but do not have extraskeletal features of OI, it can be difficult to establish a diagnosis on clinical grounds. Here, we assessed the diagnostic yield of genetic testing in this context, by sequencing a panel of genes that are associated with OI. DNA sequence analysis was performed on 94 individuals below 21 years of age who had a significant fracture history but had white sclera and no signs of dentinogenesis imperfecta. Disease-causing variants were detected in 28% of individuals and affected 5 different genes. Twelve individuals had mutations in COL1A1 or COL1A2, 8 in LRP5, 4 in BMP1, and 2 in PLS3. DNA sequence analysis of currently known OI-associated genes identified disease-causing variants in more than a quarter of individuals with a significant fracture history but without extraskeletal manifestations of OI. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Science communicators (journalists, bloggers, editors) | 1 | 33% |
| Practitioners (doctors, other healthcare professionals) | 1 | 33% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 38 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 11% |
| Student > Doctoral Student | 4 | 11% |
| Student > Ph. D. Student | 3 | 8% |
| Other | 3 | 8% |
| Professor | 3 | 8% |
| Other | 10 | 26% |
| Unknown | 11 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 15 | 39% |
| Biochemistry, Genetics and Molecular Biology | 5 | 13% |
| Nursing and Health Professions | 2 | 5% |
| Agricultural and Biological Sciences | 2 | 5% |
| Unspecified | 1 | 3% |
| Other | 2 | 5% |
| Unknown | 11 | 29% |
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 09 July 2017.
All research outputs
#14,057,676
of 22,963,381 outputs
Outputs from Osteoporosis International
#2,122
of 3,668 outputs
Outputs of similar age
#167,424
of 308,980 outputs
Outputs of similar age from Osteoporosis International
#32
of 86 outputs
Altmetric has tracked 22,963,381 research outputs across all sources so far. This one is in the 37th percentile – i.e., 37% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,668 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one is in the 41st percentile – i.e., 41% 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 308,980 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 86 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 60% of its contemporaries.