Table 1.
Drosha variants found in hereditary hemorrhagic telangiectasia patients
| Patient | Clinical characteristics | Nucleotide substitution | Protein substitution | Allele frequency |
|---|---|---|---|---|
| P1 | P, mother with H, sister and grandmother have E | 95C>T | P32L | 0.0001 |
| F1-I-1 | Severe E, (cauterized age 10) | 299C>T | P100L | 0.0002 |
| F1-II-4 | Severe E, T | 299C>T | P100L | 0.0002 |
| F1-III-1 | E, T | 299C>T | P100L | 0.0002 |
| F1-III-2 | E, C (ruptured) | 299C>T | P100L | 0.0002 |
| P4 | E, T | 299C>T | P100L | 0.0002 |
| P5 | E, T, P, | 676A>G | K226E | 0.00009 |
| F2-I-2a | E, T, GI-T, P, H, liver shunts | 836G>T | R279L | absent |
| F2-II-1a | E, T, GI-T, multiple P | 836G>T | R279L | absent |
All nucleotide substitutions are heterozygous. Presence in population refers to the presence of Drosha variant in the ExAC database.
a
These individuals carry a mosaic Eng mutation (c.1311+1G>A) in addition to Drosha variant. C, cerebral arteriovenous malformation (AVM); E, epistaxis; F, family; GI-T, gastrointestinal telangiectasia; H, hepatic AVM; NA, not applicable; P, proband; P1, pulmonary AVM; T, telangiectasia.