Advanced paternal age is associated with an increased risk of which condition?

Advanced paternal age is associated with an increased risk of conditions that arise from mutations occurring in male germ cells over time. Specifically, one of the most notable conditions linked to advanced paternal age is achondroplasia, a type of skeletal dysplasia characterized by disproportionate short stature.

The underlying reason for this association lies in the biology of sperm production. As men age, the number of mutations in spermatogenic cells increases, leading to a greater likelihood of passing on genetic changes that can lead to certain conditions. Achondroplasia is primarily caused by a mutation in the FGFR3 gene, and research has shown that the risk of this mutation is positively correlated with paternal age.

While conditions like Down syndrome are primarily associated with advanced maternal age due to factors during oocyte development, achondroplasia remains a notable exception where paternal age plays a critical role in risk elevation. Understanding the genetic mechanisms at play highlights the importance of paternal age in discussions surrounding genetic counseling and reproductive planning.