Wolf-Hirschhorn syndrome (WHS) is caused by a deletion in the short arm of chromosome 4. WHS patients have characteristic craniofacial features and a wide variety of phenotypes, including mental retardation, cardiac defects and skeletal malformations. In order to identify the genes involved in WHS, Catarina Catela and colleagues inactivated the fibroblast growth factor receptor-like 1 (Fgfrl1) gene in mice, which is located on the short arm of chromosome 4. The mutant mice exhibit several abnormalities that are common to WHS patients, including short stature, thick cardiac valves and diaphragm defects.
2009
