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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
  1. n/d: not determined