Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the <em>WNT1</em> gene

pubmed: wnt1 2023-01-28


The WNT1 gene is crucial for bone development and homeostasis. Homozygous mutations in WNT1 cause severe bone fragility known as osteogenesis imperfecta type XV. Moreover, heterozygous WNT1 mutations have been found in adults with early-onset osteoporosis. We identified a 35 year-old Caucasian woman who experienced multiple vertebral fractures two months after her second pregnancy. There was no history of risk factors for secondary osteoporosis or family history of osteoporosis. Dual-energy...


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Exome ยป pubmed: wnt1



Maria Cristina Campopiano, Antonella Fogli, Angela Michelucci, Laura Mazoni, Antonella Longo, Simona Borsari, Elena Pardi, Elena Benelli, Chiara Sardella, Laura Pierotti, Elisa Dinoi, Claudio Marcocci, Filomena Cetani

Date tagged:

01/28/2023, 23:45

Date published:

08/25/2022, 06:00