Genes Contributing to Genetic Disease ID’D

U.S.-led scientists have identified two genes that contribute to Cornelia deLange syndrome, a genetic disease affecting about one in 10,000 children.

The international team of researchers led by Dr. Ian Krantz of The Children’s Hospital of Philadelphia discovered mutations in two genes cause mental retardation, but with less pronounced facial features and none of the limb defects, such as missing hands or fingers, that are hallmarks of classic cases of deLange syndrome.

The genes play important roles in early development, and when mutated, cause brain abnormalities.

Our work suggests that a subset of patients with mental retardation may have mutations in these genes, without showing the broader range of symptoms identified in diseases such as Cornelia deLange syndrome, said Krantz, a specialist in pediatric genetics.

The research by Krantz, co-author Dr. Laird Jackson of Drexel University College of Medicine, and contributors representing 10 medical institutions in the United States, Spain, Belgium, Australia, Denmark, Canada and Italy, appeared online Jan. 17 in the American Journal of Human Genetics, in advance of print publication in March.