Inherited deafness studies may affect genetic counseling

June 16, 1999--Researchers have confirmed that one type of genetic mutation causes inherited profound deafness, while another mutation thought to cause deafness does not. These results, say the investigators, emphasize the value of basing genetic counseling on data derived from detailed genetic studies.

Writing in the June 16, 1999 issue of the Journal of the American Medical Association, the team, which included HHMI investigator Val Sheffield of the University of Iowa College of Medicine, reported that about three percent of their sample population carried a mutant form of the gene GJB2. The lead authors of the study were Glenn Green and Daryl Scott of the University of Iowa College of Medicine.

Genetic tests on 52 young people with moderate to profound congenital deafness showed that 42 percent had sequence variations in the GJB2 gene. This finding confirms earlier studies by Sheffield's team and others which suggest that mutations in GJB2 contribute to inherited deafness. The Iowa team found that the majority of those people with a defective GJB2 gene had a specific mutation, which researchers call 35delG.

Studies of 560 randomly selected healthy infants showed that about 2.5 percent of these children are "carriers" of the 35delG mutation. These infants were not deaf because they carried only one copy of the defective gene. (Two mutant copies of such a "recessive" gene are required to cause genetic disease.) Overall, the researchers found that about 3 percent of the infants had some type of sequence variation in the GJB2 gene.

But the incidence of a second type of mutation in GJB2 (which researchers call M34T) was found to be very low in the group with profound deafness. An earlier study by other investigators suggested that the M34T variant is a "dominant mutation," which means that inheriting only one copy of the mutant gene

Contact: Jim Keeley
Howard Hughes Medical Institute

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