WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

  title={WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.},
  author={Christine M. Laine and Kyu Sang Joeng and Philippe M Campeau and Riku Kiviranta and Kati M. Tarkkonen and Monica Grover and James T. Lu and Minna Pekkinen and Maija Wessman and Terhi J. Heino and Vappu Nieminen-Pihala and Mira Aronen and Tero Laine and Heikki Kr{\"o}ger and William G. Cole and A E Lehesjoki and Lisette Nevarez and Deborah Krakow and Cynthia J R Curry and Daniel H Cohn and Richard A. Gibbs and Brendan Lee and Outi M{\"a}kitie},
  journal={The New England journal of medicine},
  volume={368 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… CONTINUE READING


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Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

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Clinica chimica acta; international journal of clinical chemistry • 2016
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