RT Journal Article
SR Electronic
T1 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP e37
OP e37
DO 10.1136/jmg.2005.037655
VO 43
IS 7
A1 Richardson, R J
A1 Joss, S
A1 Tomkin, S
A1 Ahmed, M
A1 Sheridan, E
A1 Dixon, M J
YR 2006
UL http://jmg.bmj.com/content/43/7/e37.abstract
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.