Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

@article{Houseman2001GeneticAO,
  title={Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.},
  author={Mark Houseman and L. A. Ellis and Alistair T Pagnamenta and W L Di and Sarah J Rickard and Amelia H Osborn and H. H. M. Dahl and G. R. Taylor and Maria A. K. Bitner-Glindzicz and William Reardon and Robert Franz M{\"u}ller and David P Kelsell},
  journal={Journal of medical genetics},
  year={2001},
  volume={38 1},
  pages={20-5}
}
Mutations in the human gap junction beta-2 gene (GJB2) that encodes connexin-26 have been shown to cause non-syndromic sensorineural hearing loss (NSSNHL) at the DFNB1 locus on 13q11. Functional and genetic data regarding the disease causing potential of one particular GJB2 sequence variant, 101 T-->C (M34T), have proven contradictory. In this study, we found the prevalence of the M34T allele in a cohort of white sib pairs and sporadic cases with NSSNHL from the United Kingdom and Ireland to be… CONTINUE READING

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Autosomal recessive nonsyndromic neuro - sensory deafness at DFNB 1 not associated with the compound - heterozygous GJB 2 ( connexin 26 ) genotype M 34 T / 167 delT

AJ GriYth, AA Chowdhry, +3 authors CI Berlin
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Mutations in the human connexin - 30 gene ( GJB 6 ) causes hidrotic ectodermal dysplasia ( Clouston syndrome )

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