All authors declare no conflict of interest.
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
Version of Record online: 26 APR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 4, pages 378–381, October 2013
How to Cite
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family., , , , , .
- Issue online: 11 SEP 2013
- Version of Record online: 26 APR 2013
- Accepted manuscript online: 2 APR 2013 10:07AM EST
- Manuscript Revised: 27 MAR 2013
- Manuscript Accepted: 27 MAR 2013
- Manuscript Received: 20 FEB 2013
- British Heart Foundation. Grant Numbers: FS/11/40/28739, PG/10/58/28477
- connexin 43;
- oculodentodigital syndrome;
- ODD syndrome
Oculodentodigital syndrome (ODD; OMIM 164200) is a congenital condition with phenotypic features most commonly affecting the face, eyes, dentition and digits. The condition is caused by mutations in the GJA1 gene on chromosome 6. GJA1 codes for connexin 43, a gap junction protein important in providing cell to cell communication and is expressed in lymphatic valves. We present a patient with a clinical and molecular diagnosis of ODD and lower limb lymphoedema. Sanger sequencing of family members confirmed that the missense, p.K206R, GJA1 mutation segregated with the phenotype suggestive of causality. To our knowledge this association has not been reported previously. This is therefore the second connexin gene associated with a lymphoedema phenotype after the recent publication of GJC2 (connexin 47) as a cause of four limb lymphoedema.