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首页> 外文期刊>BMC Medical Genetics >The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report
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The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

机译：骨生成不全症同胞异常程度不同的兄弟姐妹中WNT1的最5'截短纯合突变：病例报告

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摘要

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. 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. 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.
机译：WNT1突变会导致骨骼脆弱以及脑部异常。有一些报道的WNT1突变病例具有正常的认知。 WNT1突变的基因型和表型相关性尚未建立。在这里，我们介绍了两个近亲的成骨不全（OI）的女性同胞。两者均患有严重的骨畸形。但是，只有年轻人的脑部异常异常严重，导致肺炎早期死亡，而老年人则具有正常的智力发育。下一代测序显示WNT1中纯合突变c.6delG，p.Leu3Serfs * 36。据我们所知，这是迄今为止最5'截短的突变。该报告强调了在这种OI类型中发现的脑部异常的家族内变异性，并表明WNT1对于正常的人类认知发展可能不是必需的。

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