A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

@article{Wilch2010AND,
  title={A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.},
  author={Ellen Shields Wilch and Hela Azaiez and Rachel A. Fisher and Jill L. Elfenbein and Alessandra Murgia and Ralf Birkenh{\"a}ger and Hanno J Bolz and Sueli Matilde da Silva-Costa and Ignacio Del Castillo and Thomas Haaf and L Hoefsloot and Hannie Kremer and Christian Kubisch and C{\'e}dric Le Mar{\'e}chal and Aditya Pandya and Edi L{\'u}cia Sartorato and E Schneider and Guy Van Camp and Wim A Wuyts and Rebecca L Smith and Karen H. Friderici},
  journal={Clinical genetics},
  year={2010},
  volume={78 3},
  pages={
          267-74
        }
}
Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previously, we demonstrated reduced expression of both GJB2 and GJB6 mRNA from the allele carried in trans… CONTINUE READING
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