Abstract | BACKGROUND: 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.
|
Authors | R J Richardson, S Joss, S Tomkin, M Ahmed, E Sheridan, M J Dixon |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 43
Issue 7
Pg. e37
(Jul 2006)
ISSN: 1468-6244 [Electronic] England |
PMID | 16816024
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
- Codon, Nonsense
- Connexin 43
|
Topics |
- Codon, Nonsense
- Connexin 43
(genetics)
- Craniofacial Abnormalities
(genetics)
- Eye Abnormalities
(genetics)
- Female
- Fingers
(abnormalities)
- Humans
- Male
- Mutation
- Mutation, Missense
- Pedigree
- Tooth Abnormalities
(genetics)
|