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Nat Commun. 2016 Jan 19;7:10486. doi: 10.1038/ncomms10486.

New observations on maternal age effect on germline de novo mutations.

Author information

  • 1Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.
  • 2Department of Pediatrics, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA.
  • 3Inova Children's Hospital, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.
  • 4Fairfax Neonatal Associates, Inova Health Systems, 3300 Gallows Road, Falls Church, Virginia 22042, USA.
  • 5Department of Obstetrics and Gynecology, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA.
  • 6Johns Hopkins University School of Medicine, 733 North Broadway Street, Baltimore, Maryland 21205, USA.

Abstract

Germline mutations are the source of evolution and contribute substantially to many health-related processes. Here we use whole-genome deep sequencing data from 693 parents-offspring trios to examine the de novo point mutations (DNMs) in the offspring. Our estimate for the mutation rate per base pair per generation is 1.05 × 10(-8), well within the range of previous studies. We show that maternal age has a small but significant correlation with the total number of DNMs in the offspring after controlling for paternal age (0.51 additional mutations per year, 95% CI: 0.29, 0.73), which was not detectable in the smaller and younger parental cohorts of earlier studies. Furthermore, while the total number of DNMs increases at a constant rate for paternal age, the contribution from the mother increases at an accelerated rate with age.These observations have implications related to the incidence of de novo mutations relating to maternal age.

PMID:
26781218
PMCID:
PMC4735694
DOI:
10.1038/ncomms10486
[PubMed - indexed for MEDLINE]
Free PMC Article
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