COLUMBUS, Ohio - After a 10-year search, an international team of scientists has identified the gene responsible for the most common form of dwarfism. The team, led by Ohio State University researchers and colleagues from Finland and Holland, reported their discovery in latest issue of the journal Cell.
The finding should enable doctors to identify carriers of the genetic mutations, may lead to a better understanding of dwarfism generally, and may someday lead to a treatment for the disease. Mutations in this gene cause a syndrome known as cartilage-hair hypoplasia, or CHH, a rare disease that occurs worldwide but is particularly prevalent in Finnish and Amish populations. Among the Amish, including those in Ohio and Pennsylvania, researchers estimate that one in 19 people carry the mutations, while among Finns, one in 76 are thought to carry them.
The syndrome has other abnormalities as well. These can include a greatly enlarged colon; immune deficiency and susceptibility to infections; and a predisposition to lymphoma and certain other cancers.
"Our finding is an important first step in understanding how this disease arises," said Albert de la Chapelle, senior author of the paper and director of the Ohio State's Human Cancer Genetics Program.