What is it about?
Mutations in WNT1-gene are known to cause severe, early-onset osteoporosis. Our study describes the changes in skeletal development and health that occur already in childhood and young adulthood as a result of WNT1-mutations. The cohort comprised eight Finnish individuals with the same heterozygous missense mutation p.C218G in WNT1-gene.
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Why is it important?
WNT1 is a newly recognized key regulator of bone health and the WNT pathway now a target for new osteoporosis medications. We describe the main skeletal consequences of impaired WNT1 signaling, the clinical characteristics of WNT1 osteoporosis and discuss the usefulness of current diagnostic and therapeutic means in treating WNT1 osteoporosis.
Perspectives
This publication brings novel information about the molecular mechanisms governing skeletal growth and development in childhood and shows the peculiar features in rare, inherited forms of monogenic osteoporosis.
Riikka Mäkitie
Klassillis-filologinen yhdistys ry
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This page is a summary of: Skeletal manifestations in pediatric WNT1 osteoporosis, Bone Abstracts, June 2015, Bioscientifica,
DOI: 10.1530/boneabs.4.oc9.
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