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Connexin mutation detection for lymphatic variation and disease

*Abstract: BackgroundLymphedema is the abnormal accumulation of lymphatic fluid in interstitial space. Patients with lymphedema suffer from recurrent local infections, physical impairment, andcosmetic and psychosocial stigmatization and may be at increased risk for developing lymphangiosarcoma.TechnologyMethods are provided for identifying risk of developing lymphedema, including primary and secondary edema. The methods comprise identifying the presence in a biological sample of a polymorphism in one or more of GJA4, GJA5 and GJC2, resulting in a functional mutation of one or more of connixin 37 (Cx37), Cx40 or Cx47.

*Principal Investigation: Name: Catherine Baty
Department: Med-Medicine

Name: Robert Ferrell, Professor
Department: All Temps

Name: David Finegold, Professor
Department: GSPH-Human Genetics

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