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Lab Reports
June 3, 2009

Wolf-Hirschhorn Syndrome

JAMA. 2009;301(21):2202. doi:10.1001/jama.2009.759

Researchers in Italy have developed a mouse model that should help scientists studying Wolf-Hirschhorn syndrome (WHS). This disorder, caused by deletions in the short arm of chromosome 4, occurs in about 1 per 20 000 births and results in a range of variable characteristics, including craniofacial abnormalities, intellectual disability, congenital heart defects, and other problems (Catela C et al. Dis Model Mech. 2009;2[5-6]:283-294).

Scientists recently reported evidence that a defective fibroblast growth factor receptor–like 1 (FGFRL1) gene might play a key role in WHS. To test this possibility, researchers with the European Molecular Biology Laboratory demonstrated that genetically modified mice with a disabled Fgfrl1 gene developed craniofacial, skeletal, and cardiac abnormalities similar to those seen in human WHS.