Type XV osteogenesis imperfecta: A novel mutation in the <em>WNT1</em> gene, c.620G &gt;A (p.R207H), is associated with an inner ear deformity

pubmed: wnt1 2023-05-31


The Wnt signaling pathway is vital in encouraging bone growth. WNT1 gene mutations have been identified as the major cause of type XV osteogenesis imperfecta (OI). Described here is a case of complex heterozygous WNT1 c.620G>A (p.R207H) and c.677C >T (p.S226L) OI caused by a novel mutation at locus c.620G >A (p.R207H). The female patient had type XV OI, distinguished by poor bone density, frequent fractures, a small stature, skull softening, lack of dentine hypoplasia, a brain malformation, and...



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Exome ยป pubmed: wnt1



Jicai Zhu, Kai Liu, Shan He, Zihao Yang, Jiaying Song, Yan Ju, Caiyun Xiong, Guomei Zhang, Wen Yang, Chunhui Tang

Date tagged:

05/31/2023, 23:21

Date published:

03/06/2023, 06:00