Table 1.
Summary of genotypes and mutations of hereditary hemorrhagic telangiectasia (HHT) of patients 1.
| HHT Type | Patient# | Genotype | Mutation |
|---|---|---|---|
| HHT1 | P#1.1 | ENG | 5′ UTR (gene promoter) c.-127 G>A |
| HHT1 | P#1.2 | ENG | 5′ UTR (gene promoter) c.-127 G>A |
| HHT1 | P#1.3 | ENG | 5′ UTR (gene promoter) c.-58 G>A |
| HHT1 | P#1.4 | ENG | 5′ UTR (gene promoter) c.-58 G>A |
| HHT1 | P#1.5 | ENG | 5′ UTR (gene promoter) c.-58 G>C |
| HHT1 | P#1.6 | ENG | Intron 1 c.68-2A>T |
| HHT1 | P#1.7 | ENG | Intron 1 c.68-2A>T |
| HHT1 | P#1.8 | ENG | Intron 1 c.68-2A>T |
| HHT1 | P#1.9 | ENG | Exon 4 c.392 C>T; p.Pro131Leu |
| HHT1 | P#1.10 | ENG | Exon 5 c.588 G>A; p.Trp196 * |
| HHT1 | P#1.11 | ENG | Exon 5 c.588 G>A; p.Trp196 * |
| HHT1 | P#1.12 | ENG | Exon 5 c.617delG; p.G206AfsX16 |
| HHT1 | P#1.13 | ENG | Exon 5 c.617delG; p.G206AfsX16 |
| HHT1 | P#1.14 | ENG | Exon 7 c.967_968del GT; p.V323fs * |
| HHT1 | P#1.15 | ENG | Exon 7 c.967_968delGT; p.V323fs * |
| HHT1 | P#1.16 | ENG | Exon 11 c.1434_1435 del AG p. R478fs * |
| HHT2 | P#2.1 | ALK1 | Exon 6 c.673_674delAG; p.S225fs |
| HHT2 | P#2.2 | ALK1 | Exon 6 c.673_674delAG; p.S225fs |
| HHT2 | P#2.3 | ALK1 | Exon 6 c.635 G>A; p.R212H |
| HHT2 | P#2.4 | ALK1 | Exon 7 c.889delC; H297fs * |
| HHT2 | P#2.5 | ALK1 | Exon 7 c.921-927dupATGCGGC; p.L310fs |
| HHT2 | P#2.6 | ALK1 | Exon 7 c. 926 G>A; p.G309A |
| HHT2 | P#2.7 | ALK1 | Exon 7 c.941 A>C; p.His314Pro |
| HHT2 | P#2.8 | ALK1 | Exon 7 c.988 G>T; p.D330Y |
| HHT2 | P#2.9 | ALK1 | Exon 7 c.1027 C>T; p.Q374X |
| HHT2 | P#2.10 | ALK1 | Exon 7 c.1027 C>T; p.Q374X |
| HHT2 | P#2.11 | ALK1 | Exon 7 c.1027 C>T; p.Q374X |
| HHT2 | P#2.12 | ALK1 | Exon 7 c.1030 C>T; p.C344R |
| HHT2 | P#2.13 | ALK1 | Exon 8 c.1120 C>T; p.R374W |
| HHT2 | P#2.14 | ALK1 | Exon 8 c.1120 C>T; p.Arg374Trp |
| HHT2 | P#2.15 | ALK1 | Exon 8 c.1232 G>A; p.Arg411Gln |
| HHT2 | P#2.16 | ALK1 | Exon 10 c.1435 C>T; p.Arg479X |
1 A total of 33 HHT patients were included in this microRNA analyses. All HHT patients were clinically diagnosed following the Curaçao criteria [3]. Sixteen patients were genetically diagnosed as HHT1 as they harbor a mutation in ENG, whereas the remaining 17 patients were HHT2 with pathogenic mutations in ALK1; fs—frameshift mutation; Asterisks (*) represent stop codons.