Genotypic and phenotypic spectrum and pathogenesis of WNT1 variants in a large cohort of patients with OI/osteoporosis

CONCLUSIONS: Biallelic nonsense mutations or frameshift mutations of WNT1 could lead to an earlier occurrence of fragility fractures and a more severe skeletal phenotype in OI and EOOP induced by WNT1 mutations. The reduced osteogenic activity caused by WNT pathway downregulation could be a potential pathogenic mechanism of WNT1 related OI and EOOP.