Table 1.
Molecular results and clinical findings in probands and family members
| 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 | ||
PAVM: Pulmonary AVM
CAVM: Cerebral AVM
GI: Gastrointestinal
Unknown: has not been tested
*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.