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

pubmed: wnt1 2023-03-19


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.


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Exome ยป pubmed: wnt1



Jing Hu, Xiaoyun Lin, Peng Gao, Qian Zhang, Bingna Zhou, Ou Wang, Yan Jiang, Weibo Xia, Xiaoping Xing, Mei Li

Date tagged:

03/19/2023, 15:29

Date published:

01/03/2023, 06:00