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Previous Volume 352:1557-1564 April 14, 2005 Number 15 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Supplementary Material Editorial by Nadeau, J. H. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear Related Article PubMed Citation

SUMMARY

Five adult siblings presented with autosomal recessive sensorineural hearing loss: two had high-frequency loss, whereas the other three had severe-to-profound loss affecting all frequencies. Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23) caused the hearing loss in all five siblings and that a heterozygous, hypofunctional variant (V586M) in plasma-membrane calcium pump PMCA2, which is encoded by ATP2B2, was associated with increased loss in the three severely affected siblings. V586M was detected in two unrelated persons with increased sensorineural hearing loss, in the other caused by a mutation in MYO6 (which encodes myosin VI) in one and by noise exposure, suggesting that this variant may modify the severity of sensorineural hearing loss caused by a variety of factors.

Source Information

From the Section on Human Genetics (J.M.S., A.L., R.J.M.), the Section on Gene Structure and Function (Y.Y., A.J.G.), and the Hearing Section (A.C.M., A.J.G.), National Institute on Deafness and Other Communication Disorders, and the Cardiovascular Branch, National Heart, Lung, and Blood Institute (S.A.M., L.F.), National Institutes of Health, Rockville and Bethesda, Md.; the Department of Biochemistry and Molecular Biology (A.J.C., A.G.F.) and the Department of Anesthesiology (A.R.P.), Mayo Foundation, Rochester, Minn.; and the Neuroscience Center, Massachusetts General Hospital and Harvard Medical School, Boston (J.T.P.).

Address reprint requests to Dr. Griffith at the NIDCD, National Institutes of Health, 5 Research Ct., Rm. 2A-01, Rockville, MD 20850, or at griffita{at}nidcd.nih.gov.

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