期刊
BMC MEDICAL GENETICS
卷 19, 期 -, 页码 -出版社
BMC
DOI: 10.1186/s12881-018-0639-0
关键词
Brain anomalies; Osteogenesis imperfecta; WNT1; Mutation; Phenotype; Case report
资金
- Chulalongkorn Academic Advancement into Its second Century Project
- Thailand Research Fund [BRG5980001, DPG6180001]
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.
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