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Using the recently completed physical map of human chromosome 7, researchers have identified a gene that, when altered, is thought to cause as many as 1 in 10 cases of hereditary deafness (Nat Genet. 1997;17:411-422). The discovery was the result of a collaborative effort by investigators at the National Human Genome Research Institute (NHGRI), Bethesda, Md; the University of Iowa, Iowa City; and Hadassah University, Jerusalem, Israel.
The altered gene results in Pendred syndrome, a disorder characterized by congenital deafness due to improper development of the inner ear early in fetal life. Patients with the syndrome also often develop goiter later in life.
Stephenson J. Altered Gene Linked to Deafness. JAMA. 1998;279(3):188. doi:10.1001/jama.279.3.188-JHA71007-2-1
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