Geneticists from The Childrens Hospital of Philadelphia and Drexel University College of Medicine in Philadelphia led the study, which received advance online publication on May 17 on the web site of Nature Genetics. In pinpointing the gene, they used an innovative research approach that may lend itself to investigations of other genetic conditions, particularly orphan diseases: rare, poorly understood disorders.
The lead researchers, Ian D. Krantz, M.D., of Childrens Hospital, and Laird G. Jackson, M.D., of Drexel University College of Medicine, together maintain the worlds largest database of patients with Cornelia de Lange syndrome (CdLS), drawing on clinical records and genetic samples first gathered 30 years ago.
Named for a Dutch physician who first described it in 1933, the syndrome often includes mental retardation, impaired growth, heart defects, gastroesophageal reflux and feeding problems, impaired vision, hearing loss, and upper limb abnormalities, including missing fingers or hands. There are typically distinctive facial features, such as thin eyebrows that join together, long eyelashes, thin lips and excessive body hair. In the past, CdLS was often fatal in infancy; now, most children with the condition live into adulthood.
Although CdLS has been known for decades, the disease is a challenge to scientists. This syndrome has been confusing for a long time, because its been difficult to trace one source for its multiple effects on many organs, said Dr. Krantz, the lead author and principal investigator of the study. The disease is also variable some