September 13, 2000

Genetic Testing to Identify Deaf Newborns

Author Affiliations

Stephen J.LurieMD, PhD, Senior EditorIndividualAuthorPhil B.FontanarosaMD, Executive Deputy EditorIndividualAuthor


Copyright 2000 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2000

JAMA. 2000;284(10):1245. doi:10.1001/jama.284.10.1239

To the Editor: Mutations in the GJB2 gene are the most common cause of prelingual deafness, accounting for approximately half of all nonsyndromic recessive deafness in many world populations.1 In select groups, such as Ashkenazi Jews, this proportion is even higher.2 Two deafness-causing GJB2 mutations are particularly common: the 35delG mutation, with a carrier frequency of 2.5% in the midwestern United States1; and the 167delT mutation, with a carrier frequency of 4.76% in the Ashkenazi population.2 The prevalence of these mutations has led to tremendous interest in the clinical use of mutation screening to identify newborns with GJB2-related deafness.

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