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We were pleased to see the results of Marlin et al¹ in the article "Connexin 26 Gene Mutations in Congenitally Deaf Children," which appeared in the August 2001 issue of the ARCHIVES. Their results confirm those of our previously published study demonstrating that the M34T allele of connexin 26 (GJB2) is unlikely to be a recessive mutant allele causing DFNB1 deafness.² However, their statement that they " . . . report herein for the first time, to our knowledge, that 2 subjects (parents of deaf children) who were compound heterozygotes (M34T/35delG) had normal hearing" is misleading. Although the statement appears to restrict their conclusion to the M34T/35delG genotype, its wording and the context of its discussion lay broader claim to the idea that M34T is not a recessive deafness allele. They do not refer to our study published nearly 1 year prior in September 2000 (electronic publication in . . . [Full Text of this Article]

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A genotype-phenotype correlation for GJB2 (connexin 26) deafness
Cryns et al.
J. Med. Genet. 2004;41:147-154.
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