A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.

@article{Feldmann2009ANL,
  title={A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.},
  author={Delphine Feldmann and C{\'e}dric Le Mar{\'e}chal and Laurence Jonard and Patrick Thierry and C{\'e}cile Czajka and R{\'e}my Couderc and Claude F{\'e}rec and Françoise Denoyelle and Sandrine Marlin and Florence Fellmann},
  journal={European journal of medical genetics},
  year={2009},
  volume={52 4},
  pages={195-200}
}
Mutations in the GJB2 gene encoding the gap junction protein connexin 26 are responsible for up to 30% of all cases of autosomal recessive nonsyndromic hearing impairment (HI) with prelingual onset in most populations. The corresponding locus DFNB1, located on chromosome 13q11-q12, is also affected by three distinct deletions. These deletions extended distally to GJB2, which remains intact. We report a novel large deletion in DFNB1 observed in a patient presenting profound prelingual HI. This… CONTINUE READING