New genetic syndrome

Researchers at the Children’s Hospital Boston Program in Genomics, the Harvard Medical School Program in Neuroscience and collaborators in Saudi Arabia have found children and adults with a unique genetic syndrome, which they have named Bosley-Salih-Alorainy syndrome. Individuals with the syndrome have difficulty moving their eyes horizontally, are profoundly deaf, have delayed motor development, and have malformations or complete absence of one or both internal carotid arteries. Other symptoms include external ear defects, autism, breathing difficulties, and/or mental retardation. The syndrome involves a mutation of the HOXA1 gene. The research was published in the October 2005 issue of Nature Genetics. Source:About.com.