Table 1 Clinical features and mutations of three HHT families
From: Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia
Family | Patient | Gender/Age | Clinical features | Mutations |
|---|---|---|---|---|
I | I-1 | M/46 | Epistaxis | ENG c.360+1G > A, p.Gly74_Tyr120del |
I-2 | M/43 | Epistaxis, PAVM, Epilepsy, Cerebral abscess | ENG c.360+1G > A, p.Gly74_Tyr120del | |
I-3 | F/41 | Epistaxis, PAVM | ENG c.360+1G > A, p.Gly74_Tyr120del | |
I-4 | F/14 | Epistaxis, PAVM | ENG c.360+1G > A, p.Gly74_Tyr120del | |
I-5 | F/12 | Epistaxis | ENG c.360+1G > A, p.Gly74_Tyr120del | |
II | II-1 | F/82 | Epistaxis, Skin telangiectasia | ENG c.1-127 C > T, new upstream translation start codon (TSC) |
II-2 | M/65 | Epistaxis, CAVM | ENG c.1-127 C > T, new upstream TSC | |
II-3 | M/53 | Epistaxis | ENG c.1-127 C > T, new upstream TSC | |
II-4 | F/50 | Epistaxis | ENG c.1-127 C > T, new upstream TSC | |
II-5 | M/13 | Epistaxis, CAVM, dead | n/d | |
II-6 | M/18 | Epistaxis, PAVM, Seizure, Embolic cerebral infarction | ENG c.1-127 C > T, new upstream TSC | |
III | III-1 | M/55 | Epistaxis | ACVRL1 c.252_253insC, p.Val85fsX168 |
III-2 | M/50 | Epistaxis | ACVRL1 c.252_253insC, p.Val85fsX168 | |
III-3 | F/40 | Epistaxis | ACVRL1 c.252_253insC, p.Val85fsX168 |