A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness.

@article{Richter2001ACD,
  title={A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness.},
  author={Darko Richter and Mary Ellen Conley and J. Rohrer and Laurie A Myers and Ksenija Zahradka and Jadranka Kele{\vc}i{\'c} and Jadranka Serti{\'c} and Ana Stavljeni{\'c}-Rukavina},
  journal={Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology},
  year={2001},
  volume={12 2},
  pages={107-11}
}
Hearing loss in patients with X-linked agammaglobulinemia is often attributed to recurrent infections. However, recent genetic studies suggest a different etiology in some patients. We present three unrelated patients, 6, 9, and 14 years of age, with large deletions of the terminal portion of the Bruton tyrosine kinase (Btk) gene extending 4.2-19 kb beyond the 3' end of the gene. The DNA immediately downstream of the 3' end of Btk contains the deafness-dystonia protein gene (DDP). Mutations in… CONTINUE READING