Exclusive paternal origin of new mutations in Apert syndrome
Authors:
- Sarah R SlaneySSSarah R Slaney
- Michael OldridgeMOMichael Oldridge
- Steven A. WallSWSteven A. Wall
- Pelle SahlinPSPelle Sahlin
- Göran StenmanGSGöran Stenman
- Andrew O.M. WilkieAndrew O.M. Wilkie
- 1 May 1996
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 13 (1) , 48-53
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.Keywords
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