Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene.

ABSTRACT: 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 X-ray absorptiometry confirmed a marked reduction of bone mineral density (BMD) at the lumbar spine (0.734 g/cm², Z-score -2.8), femoral neck (0.48 g/cm², Z-score -3.5), and total hip (0.589 g/cm², Z-score -3.0). Blood tests excluded secondary causes

SUBMITTER: Campopiano MC 

PROVIDER: S-EPMC9393300 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature