Patient | Mutation | De novo or inherited mutation | Consanguinity | Family history |
1# | p.I73T | De novo | No | Father and grandfather: Barrett's oesophagus |
2# | p.I73T | De novo | No | Father and grandfather: Barrett's oesophagus |
3# | p.I73T | De novo | No | Father and grandfather: Barrett's oesophagus |
4 | p.I73T | De novo | No | No |
5 | p.I73T | De novo | No | No |
6 | p.I73T | Unknown | No | 2 abortions, 1 postnatal death |
7 | p.I73T | De novo | Yes | No |
8 | p.I73T | Unknown | Unknown | Mother: thalassaemia minor, G5P2 (five pregnancies, two live births), hyperprolactinaemia, intrauterine fetal death; father: haemoglobin E haemoglobinopathy; parents: cow milk's protein intolerance |
9 | p.H59R | Father H59R, mother negative, brother negative | Yes | Father healthy, brother: spontaneous pneumothorax at age 19 years, bullous paraseptal emphysema |
10 | p.E191*¶ | De novo | No | No |
11 | p.G74V | De novo | Yes | No |
12 | p.C121F | De novo | No | No |
13 | p.A112T | Unknown | Unknown | No |
14 | p.C121F | Unknown | No | No |
15 | p.C121G | De novo | No | No |
16 | p.A53T and p.L181V | Father p.A53T and p.L181 V, sister unknown | No | Mother: asthma, atopic dermatitis, neurinoma, gestational diabetes, one abortion; father: atopic dermatitis, recurrent otitis, sister: recurrent otitis |
17 | p.L101P¶ and p.E191K¶ | Mother, grandfather p.L101P, father p.E191 K | No | Grandfather: usual interstitial pneumonia |
#: monozygous triplets; ¶: novel mutations.