| Title |
Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2
|
|---|---|
| Published in |
Osteoporosis International, March 2018
|
| DOI | 10.1007/s00198-018-4499-4 |
| Pubmed ID | |
| Authors |
S. Butscheidt, A. Delsmann, T. Rolvien, F. Barvencik, M. Al-Bughaili, S. Mundlos, T. Schinke, M. Amling, U. Kornak, R. Oheim |
| Abstract |
Pregnancy was found to be a skeletal risk factor promoting the initial onset of previously unrecognized monogenic bone disorders, thus explaining a proportion of cases with pregnancy-associated osteoporosis. Therapeutic measures should focus in particular on the normalization of the disturbed calcium homeostasis in order to enable the partial skeletal recovery. Pregnancy-associated osteoporosis (PAO) is a rare skeletal condition, which is characterized by a reduction in bone mineral density (BMD) in the course of pregnancy and lactation. Typical symptoms include vertebral compression fractures and transient osteoporosis of the hip. Since the etiology is not well understood, this prospective study was conducted in order to elucidate the relevance of pathogenic gene variants for the development of PAO. Seven consecutive cases with the diagnosis of PAO underwent a skeletal assessment (blood tests, DXA, HR-pQCT) and a comprehensive genetic analysis using a custom-designed gene panel. All cases showed a reduced BMD (DXA T-score, lumbar spine - 3.2 ± 1.0; left femur - 2.2 ± 0.5; right femur - 1.9 ± 0.5), while the spine was affected more severely (p < 0.05). The trabecular and cortical thickness was overall reduced in HR-pQCT, while the trabecular number showed no alterations in most cases. The genetic analysis revealed three novel mutations in LRP5, COL1A1, and COL1A2. Our data show that previously unrecognized monogenic bone disorders play an important role in PAO. Pregnancy should be considered a skeletal risk factor, which can promote the initial clinical onset of such skeletal disorders. The underlying increased calcium demand is essential in terms of prophylactic and therapeutic measures, which are especially required in individuals with a genetically determined low bone mass. The implementation of this knowledge in clinical practice can enable the partial recovery of the skeleton. Consistent genetic studies are needed to analyze the frequency of pathogenic variants in women with PAO. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 36 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 36 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 5 | 14% |
| Other | 4 | 11% |
| Researcher | 3 | 8% |
| Student > Master | 3 | 8% |
| Unspecified | 2 | 6% |
| Other | 4 | 11% |
| Unknown | 15 | 42% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 28% |
| Biochemistry, Genetics and Molecular Biology | 6 | 17% |
| Unspecified | 2 | 6% |
| Social Sciences | 2 | 6% |
| Agricultural and Biological Sciences | 1 | 3% |
| Other | 2 | 6% |
| Unknown | 13 | 36% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 22 April 2018.
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#20,481,952
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Outputs from Osteoporosis International
#3,027
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#291,286
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Outputs of similar age from Osteoporosis International
#56
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