Heterozygous variant in <i>WNT1</i> gene in two brothers with early onset osteoporosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 34458510.
- Also identified by DOI 10.1016/j.bonr.2021.101118 and PMC identifier 8379666.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Osteoporosis is a multifactorial disorder characterized by low bone mass and strength, leading to increased risk of fracture. The WNT pathway plays a critical role in bone remodeling by enhancing osteoblastic differentiation, which promotes bone formation, and inhibiting osteoclastic differentiation, decreasing bone resorption. Therefore, genetic alterations of this pathway will lead to impaired bone homeostasis and could contribute to varying response to treatment. We present the case of two brothers with early osteoporosis who were found to have a heterozygous variant of unknown significance in the <i>WNT1</i> gene, c.1060_1061delCAinsG (p.H354Afs*39). This finding demonstrates that frameshift variants in <i>WNT1</i> may also act in a dominant fashion leading to decreased bone mass.