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Table 1 Breakdown of identified mutations of the probands

From: Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

  ENG ACVRL1 SMAD4 Not identified
Number of probands with pathogenic variants 80 59 0 11
Sex (male/female) 46/34 23/36 0 4/7
Novel variants 20 9 0  
De novo variants 3 (3.8%) 1 (1.7%)   
Variant types
 Missense 23 (28.8%) 38 (64.4%) 0 (0%)  
 Nonsense/frameshift 28 (35.0%) 18 (30.5%) 0 (0%)  
 Splice site 20 (25.0%) 3 (5.1%) 0 (0%)  
 Large deletion 5 (6.3%) 0 (0%) 0 (0%)  
 In-frame deletion of 12–18 bp 3 (3.8%)    
 5'-UTR 1 (1.3%)    
  1. ENG endoglin, ACVRL1 activin A receptor like type 1, SMAD4 SMAD Family Member 4, UTR untranslated region