Table 1.
Biological results (ND: not determined).
| Family member | SERPINA1 genotyping (usual nomenclature) | SERPINA1 (NM_000295.4) genotyping (HGVS nomenclature) | AAT quantification | Elastase inhibitory capacity |
|---|---|---|---|---|
| I:1 (mother) |
M2 Q0cairo c.[302G>A; 1128A>C]; [638T>C; 775A>T] p.[(Arg101His); (Glu376Asp)]; ([Val213Ala); (Lys259*)] |
M2 Q0cairo c.[374G>A; 1200A>C]; [710T>C; 847A>T] p.[(Arg125His); (Glu400Asp)]; [(Val237Ala; Lys283*)] |
ND | ND |
| II:1 (Patient 1) |
Q0cairo homozygous c.[638T>C; 775A>T]; [638T>C; 775A>T] p.[(Val213Ala); (Lys259*)]; [(Val213Ala); (Lys259*)] |
Q0cairo homozygous c.[710T>C; 847A>T]; [710T>C; 847A>T] p.[(Val237Ala; Lys283*)]; [(Val237Ala); (Lys283*)] |
<0,1 g/L | 3849 UI/l |
| II:4 (Patient 2) |
Q0cairo homozygous c.[638T>C; 775A>T]; [638T>C; 775A>T] p.[(Val213Ala); (Lys259*)]; [(Val213Ala); (Lys259*)] |
Q0cairo homozygous c.[710T>C; 847A>T]; [710T>C; 847A>T] p.[(Val237Ala; Lys283*)]; [(Val237Ala); (Lys283*)] |
<0,1 g/L | 3850 UI/l |
| II:2 (Patient 3) |
Q0cairo homozygous c.[638T>C; 775A>T]; [638T>C; 775A>T] p.[(Val213Ala); (Lys259*)]; [(Val213Ala); (Lys259*)] |
Q0cairo homozygous c.[710T>C; 847A>T]; [710T>C; 847A>T] p.[(Val237Ala; Lys283*)]; [(Val237Ala); (Lys283*)] |
<0,1 g/L | <2000 UI/l |