A Novel RUNX1 Genetic Variant Identified in a Young Male with Severe Osteoporosis.

ABSTRACT: This case describes a young man with an unusual cause of severe osteoporosis and markedly deranged bone microarchitecture resulting in multiple fractures. A potentially pathogenic germline variant in the runt-related transcription factor 1 (RUNX1) gene was discovered by a focused 51-gene myeloid malignancy panel during investigation for his unexplained normochromic normocytic anemia. Further bone-specific genetic testing and a pedigree analysis were declined by the patient. Recent experimental evidence demonstrates that RUNX1 plays a key role in the regulation of osteogenesis and bone homeostasis during skeletal development, mediated by the bone morphogenic protein and Wnt signaling pathways. Therefore, rarer causes of osteoporosis, including those affecting bone formation, should be consi

SUBMITTER: Block TJ 

PROVIDER: S-EPMC10494497 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature