Abstract | BACKGROUND: CASE PRESENTATION: Here, we report a 32-year-old male patient who experienced multiple brittle fractures. Gene sequencing revealed a heterozygous mutation, c.4048G > A (p.G1350S), in the COL1A2 gene, and the patient was diagnosed with OI. Magnetic resonance imaging of his thoracolumbar spine revealed multiple Schmorl's nodes. CONCLUSIONS: This is the first reported case of OI coexisting with the spinal presentation of Scheuermann's disease. It is speculated that the COL1A2 gene mutation might be an underlying novel genetic cause of Scheuermann's disease. In conclusion, this case demonstrates the relationship between Scheuermann's disease and OI for the first time and enriches the genotype-phenotype spectrum of OI.
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Authors | Shiwei Wang, Xiaoli Wang, Xiaochun Teng, Songbai Li, Hanyi Zhang, Zhongyan Shan, Yushu Li |
Journal | BMC musculoskeletal disorders
(BMC Musculoskelet Disord)
Vol. 22
Issue 1
Pg. 525
(Jun 07 2021)
ISSN: 1471-2474 [Electronic] England |
PMID | 34098919
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- COL1A1 protein, human
- COL1A2 protein, human
- Collagen Type I
- Collagen Type I, alpha 1 Chain
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Topics |
- Adult
- Collagen Type I
(genetics)
- Collagen Type I, alpha 1 Chain
- Humans
- Intervertebral Disc Displacement
- Male
- Mutation
- Osteogenesis Imperfecta
(complications, diagnostic imaging, genetics)
- Scheuermann Disease
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