CdLS Gene Discovered

Courtesy of Trident Photographic Services

UK and US teams independently pinpointed a gene for Cornelia de Lange syndrome (CdLS), ending a 15-year search.¹² Tests for the disorder may be forthcoming. CdLS occurs in 1 in 30,000–40,000 births, causing debilitating growth problems and deformities as well as behavioral difficulties. Misdiagnoses can result in patients succumbing to potentially fatal problems such as twisted bowel.

Independently, Tom Strachan¹ at University of Newcastle, UK, and Ian Krantz² at the Children's Hospital of Philadelphia and their colleagues linked the disease to sporadic mutations in NIBPL on chromosome 5. This regulatory gene affects organ development. "Clinical geneticists have been waiting for this discovery for years," says Andreas Zankl of the Division of Molecular Pediatrics at the Centre Hospitalier Universitaire Vaudois in Lausanne, Switzerland. Strachan's colleague Emma Tonkin (pictured above) explains, "Some children who have only mild learning difficulties may go undiagnosed." A...