A coincidence leads to discovery at UCSD

The chromosomal abnormality that causes a rare, but often fatal, disorder that affects infants has been identified by researchers at the University of California, San Diego School of Medicine, who happened to treat two young children with the disease.

Congenital Tufting Enteropathy (CTE) is a rare, congenital disorder that causes changes in the intestines of children that lead to severe diarrhea, the inability to consume food or absorb nutrition, and subsequent growth failure.

It was a coincidence that led the study’s principal investigator, Mamata Sivagnanam, M.D., assistant professor at UCSD’s School of Medicine and Rady Children’s Hospital, to discover the gene.

Sivagnanam and her colleagues were treating an infant with severe diarrhea and diagnosed him with CTE. At the same time, they were treating this rare disorder in another child and noticed that they both had the same, uncommon last name.

“It turned out that these two children were what is called double second cousins,” Sivagnanam said, meaning that the two mothers are first cousins, and so are the two fathers – sharing a common set of grandparents.

“We suspected that this was a heritable disease, but these two families – unknown to one another – each had a child with CTE. This unique familial relationship enabled us to isolate the chromosome mutated in the disorder.”

The study was funded by a grant from the National Institutes of Health and an American College of Gastroenterology Clinical Research Award.