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The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.

AuthorsDelphine Feldmann, Françoise Denoyelle, Hélène Blons, Stanislas Lyonnet, Natalie Loundon, Isabelle Rouillon, Smail Hadj-Rabia, Christine Petit, Rémy Couderc, Eréa-Noel Garabédian, Sandrine Marlin
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 137 Issue 2 Pg. 225-7 (Aug 30 2005) ISSN: 1552-4825 [Print] United States
PMID16059934 (Publication Type: Letter)
Chemical References
  • Connexins
  • GJB2 protein, human
  • Connexin 26
Topics
  • Abnormalities, Multiple (genetics, pathology)
  • Audiometry
  • Connexin 26
  • Connexins (genetics)
  • Family Health
  • Female
  • Genotype
  • Hearing Loss (genetics, pathology)
  • Humans
  • Keratoderma, Palmoplantar (genetics, pathology)
  • Male
  • Mutation, Missense
  • Pedigree
  • Syndrome

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