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Background   WNT1  mutations cause bone fragility as well as brain anomalies. There are some reported cases of  WNT1  mutations with normal cognition. Genotype and phenotype correlation of  WNT1  mutations has not been established.    Case presentation  Here we present two female siblings with osteogenesis imperfecta (OI) born to a consanguineous couple. Both sustained severe bone deformities. However, only the younger had severe brain anomalies resulting in an early death from pneumonia, while the older had normal intellectual development. Next generation sequencing showed a homozygous mutation, c.6delG, p.Leu3Serfs*36 in  WNT1 . To our knowledge, it is the most 5′ truncating mutation to date .Conclusion  This report emphasizes the intrafamilial variability of brain anomalies found in this OI type and suggests that WNT1 may not be necessary for normal human cognitive development.

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report