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Timing of mutation determines the outcome

05:20 EDT 30 Jun 2017 | Medical Xpress

A single genetic mutation can lead to completely different diseases, depending on the time and location at which the mutation occurs. This finding emerged from the PhD study conducted by Rocio Acuña-Hidalgo of Radboudumc. For example, a mutation in the SETBP1 gene that occurs early in development leads to Schinzel-Giedion syndrome, but later in life it results in myeloid leukemia. "Determining the timing of mutation is crucial for its interpretation and for providing careful genetic counseling," explained Acuña-Hidalgo.

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