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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

ABSTRACT: This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T?G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation, c.884C?A, p.Ser295*. In vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their target genes, and mineralization. In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and hematopoietic progenitors; lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signaling between the hematopoietic and osteoblastic lineage cells in these diseases.

SUBMITTER: Laine CM

PROVIDER: S-EPMC3709450 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature

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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

Laine Christine M CM Joeng Kyu Sang KS Campeau Philippe M PM Kiviranta Riku R Tarkkonen Kati K Grover Monica M Lu James T JT Pekkinen Minna M Wessman Maija M Heino Terhi J TJ Nieminen-Pihala Vappu V Aronen Mira M Laine Tero T Kröger Heikki H Cole William G WG Lehesjoki Anna-Elina AE Nevarez Lisette L Krakow Deborah D Curry Cynthia J R CJ Cohn Daniel H DH Gibbs Richard A RA Lee Brendan H BH Mäkitie Outi O

The New England journal of medicine 20130501 19

This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation, c.884C→A, p.Ser295*. In vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their ta ...[more]

PMID: 23656646

Dataset Information

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

Publications

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

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