PMC:2495064 / 10560-11171 JSONTXT

Mutations Not Present in Maternal Samples No matched maternal sample was available for seven of the positive cases, but in eight cases it was possible to study a maternal blood sample taken at the time of delivery of the offspring. mtDNA mutations were not detectable in the blood of three mothers, with one harboring m.11778G→A, and two harboring m.3243A→G. This provides an approximation of the de novo mutation for mtDNA defects at 107/100,000 live births (95% CI = 87–127). Two of the mothers, accounting for the three homoplasmic offspring with LHON mutations, were also homoplasmic for the mtDNA mutation.