Table 2 Summary of clinical details of Q0 individuals
From: Identification and characterisation of eight novel SERPINA1 Null mutations
Case | Genotype | AAT (g/L) | Age at diagnosis (years) | Proband/kinship to proband | Clinical | Pack/year |
|---|---|---|---|---|---|---|
1.1 – IA | M1/Q0cork | 0.70 | 43 | proband | cough, dyspnoea | 15 |
2.1 - IA | M3/Q0perugia | 0.83 | 60 | proband | emphysema | 52 |
2.1 - IB | M3/Q0perugia | 0.80 | 54 | brother | healthy | 22 |
3.1 – IA | M1/Q0brescia | 0.70 | 73 | mother | chronic bronchitis | 0 |
3.1 – IB | M1/Q0brescia | 0.71 | 71 | father | healthy | 0 |
3.1 – IIA | Q0brescia/Q0brescia | Undetectable | 41 | proband | emphysema | 3 |
3.1 – IIB | Q0brescia/Q0brescia | Undetectable | 37 | proband | emphysema | 6 |
3.1 – IIIA | M1/Q0brescia | 0.70 | 7 | daughter | healthy | 0 |
3.1 – IIIB | M1/Q0brescia | 1.08 | 10 | daughter | healthy | 0 |
3.2 - IA | Z/Q0brescia | 0.20 | 41 | proband | emphysema | 20 |
4.1 - IA | S/Q0torino | 0.71 | 53 | proband | emphysema | 15 |
5.1 – IA | M2/Q0cosenza | 0.80 | 63 | aunt | dyspnoea | 0 |
5.1 – IB | M2/Q0cosenza | 0.85 | 67 | mother | asthma | 0 |
5.1 – IIA | S/Q0cosenza | 0.60 | 34 | proband | healthy | 4 |
5.1 – IIB | S/Q0cosenza | 0.71 | 43 | sister | healthy | 0 |
6.1 – IA | M2/Q0pordenone | 0.55 | 37 | father | healthy | 0 |
6.1 – IIA | M3/Q0pordenone | 0.81 | 6 | brother | healthy | 0 |
6.1 – IIB | M1/Q0pordenone | 0.77 | 0.5 | proband | cough | 0 |
6.2 – IA | M1/Q0pordenone | 0.91 | 54 | proband | emphysema | ex |
6.2 – IIA | M1/Q0pordenone | 0.78 | 34 | nephew | healthy | 0 |
6.2 – IIB | M1/Q0pordenone | 0.66 | 24 | nephew | healthy | 0 |
6.3 – IA | M1/Q0pordenone | 0.47 | 69 | proband | emphysema | unknown |
6.3 – IIA | M1/Q0pordenone | 0.81 | 37 | son | healthy | 0.1 |
6.4 – IA | M3/Q0pordenone | 1.30 | 38 | mother | healthy (pregnant) | 0 |
6.4 – IIA | M2/Q0pordenone | 0.78 | 6 | proband | healthy | 0 |
7.1 – IA | M1/Q0lampedusa | 0.62 | 87 | mother | emphysema | 0 |
7.1 – IIA | M1/Q0lampedusa | 0.76 | 57 | sister | healthy | 0 |
7.1 – IIB | M1/Q0lampedusa | 0.80 | 61 | sister | healthy | 0 |
7.1 – IIC | M1/Q0lampedusa | 0.73 | 55 | sister | healthy | 15 |
7.1 – IID | M1/Q0lampedusa | 0.74 | 51 | sister | chronic bronchitis | 60 |
7.1 – IIE | M1/Q0lampedusa | 0.71 | 48 | sister | chronic bronchitis | 0 |
7.1 – IIF | Q0lampedusa/Q0lampedusa | <0.1 | 46 | proband | emphysema, asthma | 0 |
7.1 – IIIA | M1/Q0lampedusa | 1.00 | 30 | niece | healthy | 0 |
7.1 – IIIB | M2/Q0lampedusa | 0.84 | 39 | nephew | healthy | 10 |
7.1 – IIIC | M1/Q0lampedusa | 0.64 | 33 | nephew | healthy | 24 |
7.1– IIID | M1/Q0lampedusa | 0.74 | 22 | nephew | healthy | 1.5 |
7.1 – IIIE | M1/Q0lampedusa | 0.67 | 15 | nephew | healthy | 0 |
8.1 – IA | M1/Q0dublin | 0.74 | 70 | proband | bronchiectasis | 1 |
8.1 – IIA | M1/Q0dublin | 0.64 | 40 | son | healthy | 0 |
8.1 – IIB | M1/Q0dublin | 0.70 | 34 | son | recurrent LRTIs | 1 |
8.1 – IIC | M1/Q0dublin | 1.11 | 39 | daughter | healthy | 0 |