Article
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
Clinical genetics - 1 Oct 2013
Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer P S, Mansour S
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Adult
- Connexin 43
- Craniofacial Abnormalities
- Exons
- Eye Abnormalities
- Female
- Foot Deformities, Congenital
- Humans
- Lymphedema
- Lymphoscintigraphy
- Mutation
- Pedigree
- Phenotype
- Syndactyly
- Tooth Abnormalities