PT  - JOURNAL ARTICLE
AU  - R J Richardson
AU  - S Joss
AU  - S Tomkin
AU  - M Ahmed
AU  - E Sheridan
AU  - M J Dixon
TI  - A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome
AID  - 10.1136/jmg.2005.037655
DP  - 2006 Jul 01
TA  - Journal of Medical Genetics
PG  - e37--e37
VI  - 43
IP  - 7
4099  - http://jmg.bmj.com/content/43/7/e37.short
4100  - http://jmg.bmj.com/content/43/7/e37.full
SO  - J Med Genet2006 Jul 01; 43
AB  - 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 resulted from the homozygous mutation R33X in the first transmembrane domain of connexin 43. Conclusions: The findings provide clear genetic evidence that ODD can be inherited in an autosomal recessive manner and that a dominant negative mechanism underlies autosomal dominant ODD.