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Uninherited genetic mutations can cause spina bifida

February 19, 2021

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Genetic mutations which occur naturally during the earliest stages of an embryo’s development can cause the severe birth defect spina bifida, finds a new experimental study in mice led by UCL scientists.

The research, published in Nature Communications, explains for the first time how a ‘mosaic mutation’ – a mutation which is not inherited from either parent (either via sperm or egg cell) but occurs randomly during cell divisions in the developing embryo – causes spina bifida.

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