Patient’s rare genetic inheritance is cause for long-term medical vigilance

In the usual, everyday gamble of parenting and genetics, a recessive disease or health condition shows up in a child only if both parents carry the gene mutation.

Researchers at Fox Chase Cancer Center are pointing to an exception to that rule.

Typically, we all inherit two copies of our genes — one copy from mom, the other from dad. But Dr. David Wiest and colleagues in North Carolina identified a boy who inherited the blueprint for his life-threatening immune disease all from mom.

The condition made it difficult for the boy to fight off infection. A bone marrow transplant rebooted his blood-forming cells, and corrected the immune deficiency problem, but Wiest says that procedure doesn’t correct potential problems in other parts of the body.

When researchers analyzed the boy’s tissue they found the gene mutation in nearly all sites.

“It should alert caregivers that they have to be more vigilant in cases where this inheritance mechanism is observed, we have to be on the lookout for other abnormalities that might develop with age,” Wiest said.

Wiest’s team used sophisticated analysis to uncover the unusual inheritance pattern, but he says there are more common, low-cost options.

“A chip called CytoChip, which will tell you whether or not parts of chromosomes have been duplicated,” Wiest said. “It’s not that difficult to do, and it’s something that could be rolled out at institutions that don’t have the level of expertise or sophistication that major universities or cancer centers would have,” Wiest said.

The study is published in the online edition of Proceedings of the National Academy of Sciences.