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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.

Original publication




Journal article


Nat Genet

Publication Date





48 - 53


Acrocephalosyndactylia, Adult, Base Sequence, Cytosine, DNA Mutational Analysis, DNA Primers, Fathers, Female, Gene Frequency, Genetic Variation, Genomic Imprinting, Genotype, Guanine, Haplotypes, Humans, Male, Maternal Age, Models, Genetic, Molecular Sequence Data, Paternal Age, Pedigree, Point Mutation, Polymerase Chain Reaction, Polymorphism, Genetic, Receptor Protein-Tyrosine Kinases, Receptor, Fibroblast Growth Factor, Type 2, Receptors, Fibroblast Growth Factor, Restriction Mapping