Article
The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.
American journal of human genetics - 1 Oct 2003
Glaser Rivka L, Broman Karl W, Schulman Rebecca L, Eskenazi Brenda, Wyrobek Andrew J, Jabs Ethylin Wang
Abstract excerpt
A paternal-age effect and the exclusive paternal origin of mutations have been reported in Apert syndrome (AS). As the incidence of sporadic AS births increases exponentially with paternal age, we hypothesized that the frequency of AS mutations in sperm would also increase. To determine the frequency of two common FGFR2 mutations in AS, we developed allele-specific peptide nucleic acid-PCR assays. Analyzing sperm...
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