A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

Abstract excerpt

BACKGROUND: Oculodentodigital syndrome (ODD) is a pleiotropic congenital disorder characterised by abnormalities of the face, eyes, dentition, and limbs. ODD, which is inherited as an autosomal dominant trait, results from missense mutations in the gap junction protein connexin 43. OBJECTIVE: To analyse a family with a history of ODD which is inherited in an autosomal recessive manner RESULTS: ODD in this family...

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