Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis

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...

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Detalles Bibliográficos
Autores principales: Turin, Christie G., Joeng, Kyu Sang, Kallish, Staci, Raper, Anna, Asher, Stephanie, Campeau, Philippe M., Khan, Amna N., Al Mukaddam, Mona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8379666/
https://www.ncbi.nlm.nih.gov/pubmed/34458510
http://dx.doi.org/10.1016/j.bonr.2021.101118
Descripción
Sumario: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 WNT1 gene, c.1060_1061delCAinsG (p.H354Afs*39). This finding demonstrates that frameshift variants in WNT1 may also act in a dominant fashion leading to decreased bone mass.

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