Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis.
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ABSTRACT:
SUBMITTER: Turin CG
PROVIDER: S-EPMC8379666 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
Publications
Heterozygous variant in <i>WNT1</i> gene in two brothers with early onset osteoporosis.
Turin Christie G CG Joeng Kyu Sang KS Kallish Staci S Raper Anna A Asher Stephanie S Campeau Philippe M PM Khan Amna N AN Al Mukaddam Mona M
Bone reports 20210818
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 br ...[more]
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