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Table 1 Molecular results and clinical findings in probands and family members

From: 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

Family # Individual (age at examination) Molecular Result Telangiectasia Epistaxis Solid Organ Involvement Segregation
in the family
Family 1 Proband (74 yo) c.-127C > T hands, lips, cheeks, palate, ears 6-8/day GI telangiectases, PAVM Yes
  Brother (74 yo) c.-127C > T hands, lips 2-3/day GI telangiectases, PAVM  
Family 2 Proband (67 yo) c.-127C > T hands, ear, lips, tongue, palate, conjunctivae 1-2/month none Yes
  Daughter (50 yo) c.-127C > T lips, tongue, palate 1-2/week PAVMs  
  Son (39 yo) c.-127C > T lips, palate, ears, hands 2/week PAVM  
  Nephew (41 yo) c.-127C > T yes yes PAVM  
  Nephew (42 yo) Negative for c.-127C > T none no unknown  
  Grandniece (18 yo) c.-127C > T yes daily Spinal AVM  
  Grandnephew (8 yo) c.-127C > T unknown daily CAVM  
Family 3 Proband 3 (28 yo) c.-127C > T face 2-6/week PAVM No
Family 4 Proband 4 (41 yo) c.-127C > T multiple face, hands and feet yes PAVM * NI
  Unaffected father of proband Negative for c.-127C > T none none unknown  
  Unaffected brother of proband Negative for c.-127C > T none none unknown  
Family 5 Proband 5 (10 yo) c.-205A > C hands and lip 1/month none Yes
  Brother (6 yo) Negative for c.-205A > C hands 1 every 2 months none  
  Father (38 yo) Negative for c.-205A > C few on hand 1 every 2 months unknown  
  Mother (38 yo) c.-205A > C none none unknown  
Family 6 Proband 6 (4 yo) c.-9G > A 2 face, 1 hand 2/month (mild) none Yes
  Mother (26 yo) c.-9G > A 4 hands, 1 face 2/month (mild) none  
  Grandmother (52 yo) c.-9G > A lips, ear, face, hands 4/month (mild) none  
Family 7 Proband 7 (27 yo) c.-9G > A few on face only in childhood unknown No
Family 8 Proband 8 (78 yo) c.-9G > A (homozygous) lips, tongue, ear, hands, face and pharynx daily none No
  Son (40 yo) c.-9G > A (obligate carrier- but not tested) lips, face "regular", "bad" none  
  1. PAVM: Pulmonary AVM
  2. CAVM: Cerebral AVM
  3. GI: Gastrointestinal
  4. Unknown: has not been tested
  5. *NI: Not informative. Based on family history it is possible that this mutation segregates in the family. However, a de novo event cannot be excluded.