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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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
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author Turin, Christie G.
Joeng, Kyu Sang
Kallish, Staci
Raper, Anna
Asher, Stephanie
Campeau, Philippe M.
Khan, Amna N.
Al Mukaddam, Mona
author_facet Turin, Christie G.
Joeng, Kyu Sang
Kallish, Staci
Raper, Anna
Asher, Stephanie
Campeau, Philippe M.
Khan, Amna N.
Al Mukaddam, Mona
author_sort Turin, Christie G.
collection PubMed
description 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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spelling pubmed-83796662021-08-27 Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis Turin, Christie G. Joeng, Kyu Sang Kallish, Staci Raper, Anna Asher, Stephanie Campeau, Philippe M. Khan, Amna N. Al Mukaddam, Mona Bone Rep Case Report 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. Elsevier 2021-08-18 /pmc/articles/PMC8379666/ /pubmed/34458510 http://dx.doi.org/10.1016/j.bonr.2021.101118 Text en © 2021 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Turin, Christie G.
Joeng, Kyu Sang
Kallish, Staci
Raper, Anna
Asher, Stephanie
Campeau, Philippe M.
Khan, Amna N.
Al Mukaddam, Mona
Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis
title Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis
title_full Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis
title_fullStr Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis
title_full_unstemmed Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis
title_short Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis
title_sort heterozygous variant in wnt1 gene in two brothers with early onset osteoporosis
topic Case Report
url 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
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