Table 2 Distribution of clinical features within genotype groups. Number (N); not applicable (NA); variants that substitute a cysteine for another amino acid (Cys–); missense variants that substitute for a cysteine (Cys+); variants that do not modify cysteine content (Cys-no)
From: Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome
N, (%) | Arachnodactyly | Camptodactyly | Wrist sign | Thumb sign | Pectus deformity | Talipes | Plain pes planus | Hindfoot deformity | Scoliosis/kyphosis | Reduced elbow extension | Senile face appearance | Dolichocephaly | Enophtalmos | Downslanting palpebral fissures | Malar hypoplasia | Micrognatia | Retrognathia | Lens subluxation | Ectopia lentis | Mitral valve regurgitation/prolapse | Aortic root dilation | Diaphragm herniation/relaxation | Cardiac intervention | Outcome (death) | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
All (%) | 52 (100) | 51 (98) | 5 (10) | 2 (4) | 5 (10) | 21 (40) | 1 (2) | 9 (17) | 4 (8) | 20 (39) | 25 (48) | 11 (2) | 16 (31) | 13 (25) | 19 (37) | 2 (4) | 12 (23) | 10 (19) | 6 (12) | 15 (29) | 50 (96) | 47 (90) | 9 (17) | 21 (40) | 32 (62) | |
Haploinsufficiency group | 8 (15) | 8 (100) | 2 (25) | 0 (0) | 0 (0) | 3 (37.5) | 0 (0) | 4 (50) | 0 (0) | 1 (12.5) | 6 (75) | 2 (25) | 2 (25) | 2 (25) | 4 (50) | 1 (12.5) | 0 (0) | 1 (12.5) | 1 (12.5) | 2 (25) | 8 (100) | 7 (87.5) | 1 (12.5) | 2 (25) | 7 (87.5) | |
Dominant negative effect group | Cys- | 18 (35) | 18 (100) | 3 (17) | 0 (0) | 1 (6) | 3 (16.7) | 0 (0) | 2 (11) | 1 (6) | 7 (39) | 8 (44) | 4 (22) | 7 (39) | 2 (11) | 8 (44) | 0 (0) | 5 (28) | 4 (22) | 2 (11) | 5 (28) | 18 (100) | 16 (89) | 3 (17) | 7 (39) | 11 (61) |
Cys+ | 3 (6) | 3 (100) | 0 (0) | 1 (33) | 1 (33) | 3 (100) | 0 (0) | 1 (33) | 1 (33) | 1 (33) | 1 (33) | 1 (33) | 1 (33) | 1 (33) | 0 (0) | 1 (33) | 1 (33) | 1 (33) | 0 (0) | 2 (67) | 3 (100) | 3 (100) | 0 (0) | 1 (33) | 1 (33) | |
Cys-no | 23 (44) | 22 (96) | 1 (4) | 1 (4) | 3 (13) | 9 (39) | 1 (4) | 3 (13) | 2 (9) | 11 (48) | 10 (43.5) | 4 (17) | 6 (26) | 8 (35) | 7 (30) | 0 (0) | 6 (26) | 4 (17) | 3 (13) | 6 (26) | 21 (91) | 20 (87) | 5 (22) | 10 (44) | 13 (57) |