Article
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
The New England journal of medicine - 9 May 2013
Laine Christine M, Joeng Kyu Sang, Campeau Philippe M, Kiviranta Riku, Tarkkonen Kati, Grover Monica, Lu James T, Pekkinen Minna, Wessman Maija, Heino Terhi J, Nieminen-Pihala Vappu, Aronen Mira, Laine Tero, Kröger Heikki, Cole William G, Lehesjoki Anna-Elina, Nevarez Lisette, Krakow Deborah, Curry Cynthia J R, Cohn Daniel H, Gibbs Richard A, Lee Brendan H, Mäkitie Outi
Abstract excerpt
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...
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