A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
- 26 April 2013
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 84 (4), 378-381
- https://doi.org/10.1111/cge.12158
Abstract
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.Keywords
This publication has 10 references indexed in Scilit:
- Connexin37 and Connexin43 deficiencies in mice disrupt lymphatic valve development and result in lymphatic disorders including lymphedema and chylothoraxDevelopmental Biology, 2011
- Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotypeJournal of Medical Genetics, 2011
- GJC2 Missense Mutations Cause Human LymphedemaAmerican Journal of Human Genetics, 2010
- GJA1mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotypeHuman Mutation, 2009
- Estimating the Population Burden of LymphedemaAnnals of the New York Academy of Sciences, 2008
- A Gja1 missense mutation in a mouse model of oculodentodigital dysplasiaDevelopment, 2005
- Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactylyJournal of Medical Genetics, 2004
- Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital DysplasiaAmerican Journal of Human Genetics, 2003
- Roles for ?1 connexin in morphogenesis of chick embryos revealed using a novel antisense approachDevelopmental Genetics, 1999
- Specific motifs in the external loops of connexin proteins can determine gap junction formation between chick heart myocytes.Journal Of Physiology-London, 1995