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Joan Stephenson, PhD

JAMA. 1998;279:188.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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.

The normal gene, located on human chromosome 7, directs the production of a protein the researchers dubbed "pendrin," which appears to be responsible for transporting sulfate across cell membranes. When mutated, the altered gene results in a defective form of the protein, resulting . . . [Full Text of this Article]