Table 2 Deletion break-points for HHT families
Sample | Cytoband | Ins/Del | Molecular position | Size | Regions deleted | Affected genes |
|---|---|---|---|---|---|---|
JGC | 9q34.11 | Del | 130,617,254-130,626,567 | 9,313 Kb | Promoter 5' upstream ENG | Promoter ENG |
198/01/11 | 9q34.11 | Del | 130,615,100-130,618,239 | 3,139 Kb | Promoter and Exon 1 ENG | ENG |
71/03/11 | 9q34.11 | Del | 130,589,495-130,618,239 | 28,744 Kb | Promoter and Exon 1–3 ENG | ENG |
MCVD | 9q34.11 | Del | 130,525,837-130,626,567 | 100,730 Kb | 9.3 Kb promoter 5’ upstream, whole ENG and surroundings | SH2D3C, FPGS, CDK9c ENG |