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Syndrome Connecting Seizures, Deafness, Mental Retardation and Blood Pressure Identified
The researchers have revealed that they made this advance while investigating the genetic causes of blood pressure variation.
They say that their findings illustrate the power of genetic studies not only to find causes of chronic ailments, but also to identify a common cause in a seemingly unrelated set of symptoms in different parts of the body.
"Our ability to unequivocally and rapidly define new syndromes and their underlying disease genes has progressed dramatically in recent years. A study like this would have taken years in the past, but was accomplished in a few weeks by a single fellow in the lab," said Richard Lifton, chair of the Department of Genetics at the Yale School of Medicine and senior author of the study.
Ute Scholl, a post-doctoral fellow in Lifton's lab, conducted a genetic analysis of 600 patients for causes of salt-handling defects of the kidney, which led to high or low blood pressure.
She identified a group of five patients from four families in Afghanistan, Turkey, Great Britain and Canada who had, in addition to a salt-handling defect, diverse neurologic problems.
The researcher said that the patients had similar clinical features, which suggested that a single defect might be behind them all.
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