A Novel RUNX1 Genetic Variant Identified in a Young Male with Severe Osteoporosis.
ANABOLIC THERAPY
IDIOPATHIC OSTEOPOROSIS
OSTEOGENESIS
OSTEOPOROSIS IN YOUNG ADULTS
RUNX1 GENETIC VARIANT
Journal
JBMR plus
ISSN: 2473-4039
Titre abrégé: JBMR Plus
Pays: England
ID NLM: 101707013
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
06
01
2023
revised:
01
06
2023
accepted:
10
06
2023
medline:
13
9
2023
pubmed:
13
9
2023
entrez:
13
9
2023
Statut:
epublish
Résumé
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 considered in young patients with multiple unexpected minimal trauma fractures. © 2023 The Authors.
Identifiants
pubmed: 37701147
doi: 10.1002/jbm4.10791
pii: JBM410791
pmc: PMC10494497
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e10791Informations de copyright
© 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.
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