A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.
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.
Richardson
R J
RJ
Faculty of Life Sciences and Dental School, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK. mike.dixon@manchester.ac.uk.
Joss
S
S
Tomkin
S
S
Ahmed
M
M
Sheridan
E
E
Dixon
M J
MJ
D018389:Codon, Nonsense; D018031:Connexin 43 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D014071:Tooth Abnormalities / Q000235:genetics*
D018389:Codon, Nonsense; D018031:Connexin 43