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

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