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connexinopathies

Tuesday 20 April 2004

Classification by connexin

- connexin-26 (GJB2) (MIM.121011)

  • mutations in type I autosomal recessive neurosensory deafness (DFNB1) (MIM.220290)
  • autosomal dominant deafness (DFNA3) (MIM.601544)
  • autosomal dominant keratitis-ichtyosis-deafness syndrome (MIM.148210)
  • palmoplantar keratoderma with deafness (MIM.148350)
  • hystrix-like ichthyosis (MIM.602540)
  • mutilating keratoderma with ichthyosis (Vohwinkel’s syndrome with ichtyosis)(MIM.604117)

- connexin-30 (GJB6) (MIM.604418)

  • mutations in type 2 hidrotic ectodermal dysplasia (Clouston’s disease) (MIM.129500)
  • type 3 automal dominant nonsyndromic sensorineural deafness(DFNA3) (MIM.601544)
  • nonsyndromic prelingual deafness (MIM.220290)

- connexin-30.3 (GJB4) (MIM.605425) - mutations in erythrokeratodermia variabilis (EKV) (MIM.133200)
- connexin-31 (GJB3) (MIM.60324) - mutations in erythrokeratodermia variabilis (EKV) (MIM.133200) and autosomal dominant nonsyndromic sensorineural deafness (MIM.600101)
- connexin-32 (GJB1) (MIM.304040)- mutations in X-linked Charcot-Marie-Tooth disease (MIM.302800)
- connexin-43 (GJA1) (MIM.121014) - mutations in oculodentodigital dysplasia (ODDD) (MIM.164200) and type 3 syndactyly (MIM.186100)
- connexin-46 (GJA3) (MIM.121015) - mutations in autosomal dominant zonular pulverulent cataract-3 (CZP3) (MIM.601885)
- connexin-50 (GJA8) (MIM.600897)- mutations in type 1 zonular pulverulent cataract (CZP1) (MIM.116200)

References

- van Steensel MA. Gap junction diseases of the skin. Am J Med Genet. 2004 Nov 15;131C(1):12-9. PMID: 15468169

- Rabionet R, Lopez-Bigas N, Arbones ML, Estivill X. Connexin mutations in hearing loss, dermatological and neurological disorders. Trends Mol Med. 2002 May;8(5):205-12. PMID: 12067629

- Kelsell DP, Dunlop J, Hodgins MB. Human diseases: clues to cracking the connexin code? Trends Cell Biol. 2001 Jan;11(1):2-6. PMID: 11146276