Table 1 Genotype-phenotype correlation in 4 families with HHT
Family | Epistaxis | Telangiect | PAVMs | CAVMs | HAVMs | GB | Genetics |
|---|---|---|---|---|---|---|---|
NMEx | |||||||
JCG | Yes | Yes | Yes | No | No | No | Δ Promoter ENG |
PCG | Yes | Yes | No | No | No | No | Δ Promoter ENG |
MJCS | Yes | Yes | Yes | No | No | No | Δ Promoter ENG |
VAC | Yes | Yes | No | No | No | No | Δ Promoter ENG |
198 | |||||||
198/01/11 | Yes | Yes | Yes | No | No | No | Δ Promoter + exon 1 ENG |
198/02/11 | Yes | Yes | No data | No data | No data | No data | Δ Promoter + exon 1 ENG |
198/03/11 3 y | No | No | No data | No data | No data | No data | Δ Promoter + exon 1 ENG |
71 | |||||||
71/02/08 | Yes | Yes | Yes | No | Yes | Yes | Δ Promoter + exons 1-2-3 ENG |
71/03/11 | No data | No data | No data | No data | No data | Yes | Δ Promoter + exons 1-2-3 ENG |
71/04/11 | No data | No data | No data | No data | No data | No data | Δ Promoter + exons 1-2-3 ENG |
71/08/1113 y | No | No data | Yes | No data | No data | No data | Δ Promoter + exons 1-2-3 ENG |
71/09/1114 y | Yes | No data | Yes | No data | No data | No data | Δ Promoter + exons 1-2-3 ENG |
71/12/11 6 y | No | No data | No data | No data | No data | No data | Δ Promoter + exons 1-2-3 ENG |
GUM | |||||||
MCDV | Yes | Yes | Yes | Yes* | No | No | #Promoter and complete allele ENG (−9 kb + all exons) |
JMVD | Yes | Yes | No data | No data | No data | No data | #Promoter and complete allele ENG (−9 kb + all exons) |
JDHV | Yes | Yes | No data | No data | No data | No data | #Promoter and complete allele ENG (−9 kb + all exons) |