New research sheds light on the relationship between parental age and congenital disorders.
A new paper published in Genome Biology and Evolution, under Oxford University Press, revealed the association between paternal age and rare congenital disorders is more intricate than previously thought.
While it's been known that advanced paternal age increases the likelihood of offspring with conditions like bone and heart malformations (e.g., Achondroplasia, Apert, or Noonan syndrome) as well as neurodevelopmental disorders such as schizophrenia and autism, recent research suggests that while certain pathogenic mutations correlate with paternal age, others do not. Moreover, some mutations may arise in the father's testis before sexual maturity.
Delayed fatherhood heightens the risk of new mutations causing congenital disorders in children. Fibroblast growth factor receptor 3 (FGFR3) is a human protein found in tissues like cartilage, the brain, intestines, and kidneys. Driver mutations, more prevalent in older men's sperm, significantly elevate the risk of congenital disorders.
For the study, researchers collected sperm samples from anonymous donors, aged 23 to 59, and examined the variant frequency for genetic mutations in ten different FGFR3 variants.
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