Article
Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.
Bone - 1 Sept 2018
Lu Yanqin, Ren Xiuzhi, Wang Yanzhou, Bardai Ghalib, Sturm Marc, Dai Yunzhang, Riess Olaf, Zhang Yao, Li Hu, Li Tianyou, Zhai Naixiang, Zhang Jian, Rauch Frank, Han Jinxiang
Abstract excerpt
INTRODUCTION: Biallelic mutations in WNT1 can give rise to a rare form of moderate to severe OI. Here we report on 12 children (age 2 to 16 years; 5 girls) with biallelic WNT1 mutations. METHODS: Genomic DNA was analyzed either by targeted next-generation sequencing or Sanger sequencing. Mutations were modeled on the WNT1 protein structure. The in vitro functional effect of WNT1 mutations on WNT signaling was...
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