The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.

ABSTRACT: 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 DNA from 148 men, age 21-80 years, we showed that the number of sperm with mutations increased in the oldest age groups among men who did not have a child with AS. These older men were also more likely to have both mutations in their sperm. However, this age-related increase in mutation frequency was not sufficient to explain the AS-birth frequency. In contrast, the mutation frequ

SUBMITTER: Glaser RL 

PROVIDER: S-EPMC1180614 | biostudies-literature | 2003 Oct

REPOSITORIES: biostudies-literature