Abstract
Apert syndrome results from one or other of two specific nucleotide substitutions, both C→G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. The frequency of new mutations, estimated as 1 per 65,000 live births, implies germline transversion rates at these two positions are currently the highest known in the human genome. Using a novel application of the amplification refractory mutation system (ARMS), we have determined the parental origin of the new mutation in 57 Apert families: in every case, the mutation arose from the father. This identifies the biological basis of the paternal age effect for new mutations previously suggested for this disorder.
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Moloney, D., Slaney, S., Oldridge, M. et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 13, 48–53 (1996). https://doi.org/10.1038/ng0596-48
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DOI: https://doi.org/10.1038/ng0596-48
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