UCI Scientists Locate Gene for Dwarfism : Research: Prenatal testing could identify babies with a condition that leads to death quickly after birth.

UC Irvine researchers announced Thursday that they have identified the gene that causes the most common form of dwarfism, called achondroplasia, the latest discovery in the controversial field of prenatal diagnosis.

Molecular biologist John Wasmuth said the discovery will allow physicians to determine whether a fetus has the most severe type of achondroplasia. That form is invariably fatal shortly after birth.

With this information, he said, parents will know whether a child will be born healthy.

“It should be a relief to parents,” Wasmuth said during his announcement at the Chemical Research Center at UC Irvine.

Achondroplasia, which affects one in every 20,000 people, causes alterations in bone growth and development, resulting in an enlarged head, a normal torso and short limbs.

A gene test could be conducted after an ultrasound indicated that the child would be a dwarf, Wasmuth said.

Although children who inherit only one achondroplasia gene are generally healthy, those who inherit two copies die in infancy. If both parents have a copy of the gene, each of their children has a one-in-four chance of inheriting two copies and dying as a result. The researchers’ discovery of the gene will thus enable doctors to determine whether a fetus has one or two copies.

Wasmuth, who was also a member of the teams that discovered the genes for Huntington’s disease and for colon cancer, said doctors now will be able to tell within the first 10 to 12 weeks of gestation if a child with achondroplasia will be healthy.

*

Tina Schafnitz, the 5-foot-11-inch mother of a 4-year-old boy with achondroplasia, said the hardest part of her pregnancy was not knowing whether her child would live past the birth.

“What is important is that more parents will choose to keep their children,” she said. “There is a lot of relief involved, especially knowing the child would have normal intelligence and little to no medical problems.”

Schafnitz said she remembers doctors giving her a thumbs up sign when her son, Alex, was born healthy.

“Every day Alex asks me (if he) can get a brother just like him,” she said.

Some critics argue that because of such advances in prenatal diagnosis, more parents will choose abortion if told early in the pregnancy that their babies will have some form of birth defect.

“We are severely concerned, since it happened in World War II,” said David Brookfield, district director of Little People of America. “Hitler wanted everyone to be blond-haired and blue-eyed.”

Brookfield warned that “If it was happening in the 40s with limited testing,” there is an even greater possibility today that society could “eliminate differences we have in the world.”

Actor Billy Barty, founder of the Billy Barty Foundation, which serves as an education and advocacy group, said something special would be lost if there were no dwarfs. In fact, some of the world’s most famous people were dwarfs, he said.

“You know who was a dwarf, although we don’t like to talk about it?” Barty asked. “Attila the Hun.”