High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2
| Autor: | Christie-Lee Wall, Lara E Graves, Ella Onikul, Andrew Biggin, Bruce Bennetts, Karen Wong, Craig F Munns, Julie Briody |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
musculoskeletal diseases
Bone mineral Proband medicine.medical_specialty medicine.diagnostic_test business.industry Endocrinology Diabetes and Metabolism Bone Dysplasias medicine.disease Short stature Joint laxity Endocrinology Osteogenesis imperfecta Internal medicine Pediatrics Perinatology and Child Health medicine Quantitative computed tomography medicine.symptom business Genetic testing |
| Zdroj: | Hormone Research in Paediatrics. 93:263-271 |
| ISSN: | 1663-2826 1663-2818 |
| DOI: | 10.1159/000510463 |
| Popis: | Osteogenesis imperfecta (OI) is a heterogenous group of heritable bone dysplasias characterized by bone fragility, typically low bone mass, joint laxity, easy bruising, and variable short stature. Classical OI is caused by autosomal dominant pathogenic variants in COL1A1 or COL1A2 that result in either reduced production of normal type 1 collagen or structurally abnormal collagen molecules. Pathogenic variants in these genes generally result in low bone mass. Here, we report a family that had 2 affected individuals who presented with minimal trauma fractures and were found to have elevated bone mineral density (BMD) and a previously unreported variant in COL1A2 c.3356C>T p.(Ala1119Val). We report the change in BMD using dual-energy X-ray and peripheral quantitative computed tomography over a 2.3-year period in the proband. This case report highlights the importance of BMD studies and genetic testing in the diagnostic process for brittle bone disorders. |
| Databáze: | OpenAIRE |
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