AGXT gene mutational analysis. Two mutations, p.S81X and p.Ser275delinsRAfs, in patient 1 (a). Two mutations, p.M1T and p.I202N, in patient 2 (b). PolyPhen-2 predicted the p.I202N mutation to be a “damaging mutation” with a score of 0.968 (sensitivity: 0.77; specificity: 0.95) (c). Alignment of the mutated p.I202N AGT protein with different species shows the complete conservation of the amino acid in grey (d). Arrows indicate the mutation sites. P1: patient 1, P2: patient 2, F: father, M: mother, F1: foetus.