Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

@article{Kelley1998NovelMI,
  title={Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.},
  author={Phillip M. Kelley and David J. Harris and B C Comer and James Wilson Askew and Trevor Fowler and Shelley D. Smith and William J. Kimberling},
  journal={American journal of human genetics},
  year={1998},
  volume={62 4},
  pages={
          792-9
        }
}
Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with the type of autosomal recessive nonsyndromic neurosensory deafness known as "DFNB1." Studies indicate that DFNB1 (13q11-12) causes 20% of all childhood deafness and may have a carrier rate as high as 2. 8%. This study describes the analysis of 58 multiplex families each having at least two affected children diagnosed with autosomal recessive nonsyndromic deafness. Twenty of the 58 families were observed to have mutations in… CONTINUE READING
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