Table 1 Demographics and genetic characteristics of 66 patients with genetic testing completed between 2009 and 2016 at the Johns Hopkins Hospital HHT Center of Excellence

From: Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia

Gene (HHT type)

ENG (HHT1)

ACVRL1 (HHT2)

SMAD4

BMP9/GDF2

Negative/nondiagnostic testing

Patients, n (%)

28 (42.4%)

34 (51.5%)

1 (1.5%)

1 (1.5%)

2 (3.0%)

Families, n

19

20

1

1

2

Sex, n

14 male

17 male

1 male

0 male

1 male

14 female

17 female

0 female

1 female

1 female

Average age, n (range)

47.8 (2–75)

50.0 (4–80)

   

Mutation type

   

Splice defect

15

2

   

Missense

4

27

   

Nonsense

4

0

   

Large deletion

1

1

   

Deletion

0

2

   

Frameshift

3

2

1

1

 

Regulatory

1

0

   
  1. HHT, hereditary hemorrhagic telangiectasia.
  2. Genetic testing was offered to patients who had a possible or definite diagnosis of HHT according to the Curaçao criteria.
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