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Health Agencies Update
January 21, 1998

Altered Gene Linked to Deafness

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JAMA. 1998;279(3):188. doi:10.1001/jama.279.3.188-JHA71007-2-1

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.

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