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Genetic Testing to Identify Deaf Newborns
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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.
Report of Cases
Recently, we evaluated 2 deaf children for GJB2 mutations; neither child had been previously identified as a deaf neonate through the use of conventional newborn-screening audiometry. The first child had a normal result on a newborn auditory brainstem response (ABR) screening test but was diagnosed as deaf at age . . . [Full Text of this Article]
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