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Rare eye-movement disorder may shed light on brain and cardiovascular development

ny syndrome, or BSAS, after the Saudi discoverers) had horizontal gaze abnormalities. Eight were profoundly deaf, 3 had external ear defects, 7 had delayed motor development, and 2 met criteria for autism spectrum disorder with cognitive and behavioral impairment. In addition, 7 had malformations or complete absence of one or both internal carotid arteries, one of the two carotid arteries that are the main suppliers of blood to the brain.

DNA linkage studies and follow-up analyses all implicated HOXA1 in the syndrome. But to make the case, Tischfield and Engle needed to find HOXA1 mutations in other populations. For over a decade, Engle has been collecting large pedigrees of families with eye-movement disorders. She and Tischfield tapped this database and found a child from Turkey whose symptoms were much like those of the Saudi patients. This child also had a HOXA1 mutation, but in a different location on the gene.

Fortuitously, Engle and Tischfield also recalled a paper reporting a syndrome in 10 Native American children in Arizona that had many similarities to BSAS. They obtained these children's DNA and found that they also had a HOXA1 mutation, at yet another location on the gene. Like the people with BSAS, the children had horizontal gaze restriction, deafness, and delayed motor development, and some had loss or malformation of the carotid arteries. However, all also had breathing difficulties and mental retardation, and some had facial weakness, paralysis of the vocal cords and heart defects of a type that occur very early in embryonic development. The researchers attribute the differences between the Middle Eastern and Native American patients to environmental influences and the influence of other gene variations unique to each group.

Overall, however, the findings suggest that HOXA1 is involved in early development of the cardiovascular system, a function of the gene not previously known. "The cardiovascular malformations in people
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Contact: Aaron Patnode
aaron.patnode@childrens.harvard.edu
617-355-6420
Children's Hospital Boston
11-Sep-2005


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