Exclusive paternal origin of new mutations in Apert syndrome

  title={Exclusive paternal origin of new mutations in Apert syndrome},
  author={Dominique M. Moloney and Sarah R Slaney and Michael Oldridge and Steven A. Wall and Pelle Sahlin and G{\"o}ran Stenman and Andrew O M Wilkie},
  journal={Nature Genetics},
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… CONTINUE READING

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