Novel mutations in GJA1 cause oculodentodigital syndrome

A Fenwick, R J Richardson, J Butterworth, M J Barron, M J Dixon

Research output: Contribution to journalArticle (Academic Journal)peer-review

20 Citations (Scopus)


Oculodentodigital syndrome (ODD) is a rare, usually autosomal-dominant disorder that is characterized by developmental abnormalities of the face, eyes, teeth, and limbs. The most common clinical findings include a long, narrow nose, short palpebral fissures, type III syndactyly, and dental abnormalities including generalized microdontia and enamel hypoplasia. Recently, it has been shown that mutations in the gene GJA1, which encodes the gap junction protein connexin 43, underlie oculodentodigital syndrome. Gap junction communication between adjacent cells is known to be vital during embryogenesis and subsequently for normal tissue homeostasis. Here, we report 8 missense mutations in the coding region of GJA1, 6 of which have not been described previously, in ten unrelated families diagnosed with ODD. In addition, immunofluorescence analyses of a developmental series of mouse embryos and adult tissue demonstrates a strong correlation between the sites of connexin 43 expression and the clinical phenotype displayed by individuals affected by ODD.

Original languageEnglish
Pages (from-to)1021-6
Number of pages6
JournalJournal of Dental Research
Issue number11
Publication statusPublished - Nov 2008


  • Animals
  • Connexin 43
  • Craniofacial Abnormalities
  • DNA Mutational Analysis
  • Embryonic Development
  • Eye Abnormalities
  • Female
  • Humans
  • Male
  • Mice
  • Mutation, Missense
  • Odontogenesis
  • Syndactyly
  • Syndrome
  • Tooth Abnormalities

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