Connexin 26 35delG does not represent a mutational hotspot

  title={Connexin 26 35delG does not represent a mutational hotspot},
  author={Caryn R. Rothrock and Alessandra Murgia and Edi L{\'u}cia Sartorato and Emanuela Leonardi and Sainan Wei and Sarah L. Lebeis and Laura E. Yu and Jill L. Elfenbein and Rachel A. Fisher and Karen H. Friderici},
  journal={Human Genetics},
Non-syndromic hearing impairment (NSHI) is the most common form of deafness and presents with no other symptoms or sensory defects. Mutations in the gap junction gene GJB2 account for a high proportion of recessive NSHI. The GJB2 gene encodes connexin 26, which forms plasma membrane channels between cochlear cells. In Caucasian populations a single mutation, 35delG, accounts for most cases of NSHI. This mutation appears to be most prevalent in individuals of Mediterranean European descent… CONTINUE READING


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