Table 1

Clinical, lymphoscintigraphic, and venous parameters known for those patients with a mutation in GJC2

Family IFamily IIFamily IIIFamily IVFamily V
Variant identified143C>T (p.S48L)143C>T (p.S48L)143C>T (p.S48L)143C>T (p.S48L)629C>G (p.M210R)
Number of affected84224
Age of onset (years)8–14Birth to 100 to adult124–40
Limbs affectedBilateral lower limb, 4 limb4 limb, one with face and genital swellingBilateral lower limbBilateral lower limb4 limb oedema
Varicose/incompetent veinsOne individualOne individualFatherVenous duplex awaitedYes, incompetent vein
Other associated abnormalitiesNoneNoneNoneNoneNone
LymphoscintigraphyPoor uptake at 2 h. Distal hypoplasiaPoor uptake at 2 h. Distal hypoplasiaPoor uptake at 2 h. Distal hypoplasiaAwaitedPoor uptake at 2 h. Distal hypoplasia