SAN FRANCISCO, April 14 — Researchers found an array of birth defects that affect the brain, eye, ear, heart and kidney are caused by mutations to a single gene, according to a new study.
A gene called RERE is responsible for the broad range of developmental, physical and intellectual disabilities, researchers at the University of California San Francisco and Baylor College of Medicine found, representing a significant step in treating, or possibly preventing, the disabilities.
Previous research had narrowed the mutation down to the 1p36 region of the human chromosome, but only to smaller areas within the region, each of which contains dozens of individual genes.
While researchers at Baylor had found mice with the RERE mutations had birth defects similar to those in children with the 1p36 deletion, they were unable to prove the two were related until now.
Thanks to an enterprising parent whose Facebook page about her son’s condition attracted the attention of other parents whose children have the same disabilities, which until now had far less definition.
“It’s still a shock that [a mutation in] one gene is capable of causing all these different problems,” Dr. Daryl Scott, an associate professor of molecular and human genetics at Baylor, said in a press release. “But this finding really brings everything together, from molecular studies to mouse experiments and all the way to human patients. We’ve finally proved what we’ve been talking about for all these years.”
For the study, published in the American Journal of Human Genetics, researchers recruited 10 children with RERE mutations through collaborators around the United States and the Netherlands who’d been connected by Chauntelle Trefz’s Facebook page about her son, Harrison.
The researchers compared the 10 children with RERE mutations with 31 other patients who have the more common 1p36 deletion syndrome, finding the symptoms were almost identical.
Although significantly more research is needed, the number of effects the mutation has, in addition to those not shared with 1p36 deletion patients, offers at least an understanding of what is going on with patients who have the rare mutation.
“Now that we’ve seen the first 10 cases, we want to know what the next 10, the next 20 look like,” Dr. Elliott Sherr, a pediatric neurologist at the University of California San Francisco. “That may not take very long. Before we’d even published the paper, we’d already gotten calls from more clinics around the country whose patients have similar mutations. We suspect this syndrome may be significantly more common than we previously appreciated.”