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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
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Journal Article
WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
2013
Overview
This report identifies human skeletal diseases associated with mutations in
WNT1
in a family with dominantly inherited early-onset osteoporosis and in another family with recessive osteogenesis imperfecta. WNT1 is shown to be an important ligand for regulating bone mass.
Osteoporosis is a common skeletal disorder characterized by low bone mineral density (BMD), impaired bone quality, and fragility fractures.
1
Although multiple genetic loci, including those for WNT ligands, have been defined on the basis of genomewide association studies in patients with osteoporosis, the known loci are generally associated with odds ratios for fracture that are below 1.1.
2
Recently, novel metabolic pathways in bone cells have been discovered in patients with osteogenesis imperfecta, a mendelian disease characterized by brittle bones.
3
The role of the WNT pathway in bone formation and maintenance has been extensively studied since the identification of mutations in . . .
Publisher
Massachusetts Medical Society
Subject
/ Adult
/ Age
/ Aged
/ Animals
/ Biological and medical sciences
/ Child
/ Diseases of the osteoarticular system
/ Female
/ Humans
/ Ligands
/ Male
/ Malformations and congenital and or hereditary diseases involving bones. Joint deformations
/ Mice
/ Mutation
/ Osteogenesis Imperfecta - genetics
/ Osteoporosis. Osteomalacia. Paget disease
/ Pedigree
/ Siblings
