After Prudence and Jon Marsh's two infants only lived hours, researchers at the University of California, Davis, set out to determine why, Stat News reports. Their daughter Teagan lived just two hours and died of what hospital staff said was likely an infection, and a year later, their son Jackson died after 13 hours due to acid build up.
As Stat News' Karen Weintraub reports, researchers led by Davis' Véronique Taché uncovered a genetic cause of what Teagan and Jackson died through whole-exome sequencing and a bit of luck. As they reported in Case Reports in Obstetrics and Gynecology last month, Taché and her colleagues uncovered compound heterozygous mutations in Jackson's lipoyltransferase 1 (LIPT1) gene. Since Teagan died at a different hospital, Weintraub writes that the researchers had to reach out to the coroner who had performed her autopsy, who luckily still had samples from her. Teagan, too, had this LIPT1 mutation.
Weintraub notes that the researchers only homed in on this gene because it had been recently linked to the deaths of two other infants. Those reports gave them more confidence that LIPT1 was the culprit.
Finding out why Teagan and Jackson died helped the Marshes deal with their grief, Weintraub adds. "It wasn't our fault. It wasn't anything we did, or could have done, or should have done," Prudence tells her. This "made it possible for us to even think about having kids again." Their 17-month-old daughter Sadie doesn't have the LIPT1 mutation, Weintraub adds.
"Hopefully [this case] will clue in other physicians who are looking for reasons — why did this baby die?" Taché adds. "I would like to see it incorporated in panel of tests for babies that have passed away."