Rate of de novo mutations, father’s age and disease risk

Posted by & filed under Exome sequencing.

Whole-genome sequencing of 78 parent–offspring trios in Iceland was used to study the de novo genome-wide mutation rates. Fathers on average passed more de novo mutations than mothers. The overall de novo genome-wide mutation rate is reported to increase by about two mutations a year as a function of the increasing age of the father at conception. The father’s age accounted for nearly all of the variation in the number of new mutations in a child’s genome. According to Kong et al. these data may be consistent with the importance of father’s age on the risk of diseases such as autism and schizophrenia.

 Rate of de novo mutations and the importance of father’s age to disease risk. Kong et al. Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396. PMID: 22914163

Posted by Yannis Trakadis, MD

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