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Genetic analysis of the connexin-26 M34T variant
  1. Andrew J Griffith
  1. Hearing Section and Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2A-02, Rockville, MD 20850, USA
  1. Dr Griffith, griffita{at}nidcd.nih.gov

http://dx.doi.org/10.1136/jmg.38.7.e24

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    Editor—Existing published data cannot conclusively determine if the M34T allele of connexin-26 (GJB2) is a recessive allele causing hearing loss. The recent article by Houseman et al(J Med Genet2001;38:20-5) “Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss,” does not resolve this question. Housemanet al state that M34T segregates with hearing loss, although their data are inconsistent with this assertion.GJB2 genotype data were available for five sib pairs, yet only two of the sib pairs (1 and 2) showed cosegregation of M34T with hearing loss. Sib pairs 3, 4, and 5 showed discordant inheritance of M34T with hearing loss, raising the likelihood that their hearing loss was unrelated to the GJB2genotype. Biallelic GJB2 mutations and/or polymorphisms were detected only in sib pairs 1 (M34T/M34T) and 5 (M34T/35delG) and subject SP6A (M34T/35delG). It is unknown if atrans GJB2mutation was missed in the other …

    Dr Kelsell, kelsell{at}icrf.icnet.uk

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