Table 1 Demographic and genetic profile characteristics. 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
Gender | Age at examination | Genetic profile | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N, (%) | Female | Male | NA | Newborn | Preterm | Infants, months (mean, Q1-Q3) | Exon 24–32 | De novo | Missense | Deletion | Splice site | Insertion | ||
All | 52 (100) | 24 (46) | 27 (52) | 1 (2) | 32 (62) | 7 (13) | 10.9 (Q1-Q3, 4–11) | 49 (94) | 48 (92) | 39 (75) | 6 (12) | 6 (12) | 1 (2) | |
Haploinsufficiency | 8 (15) | 3 (37.5) | 5 (62.5) | 0 (0) | 7 (87.5) | 1 (12.5) | 7 (87.5) | 6 (75) | 0 (0) | 2 (25) | 6 (75) | |||
Dominant negative effect | Cys– | 18 (35) | 9 (50) | 8 (44) | 1 (6) | 7 (39) | 5 (28) | 6.6 (Q1-Q3, 4–9) | 17 (94) | 18 (100) | 15 (83) | 3 (17) | ||
Cys+ | 3 (6) | 2 (67) | 1 (33) | 2 (67) | 36 | 3 (100) | 3 (100) | 2 (67) | 1 (33) | |||||
Cys-no | 23 (44) | 10 (43.5) | 13 (56.5) | 16 (70) | 1 (4) | 10.9 (Q1-Q3, 2–18) | 22 (96) | 21 (91) | 22 (96) | 1 (4) | ||||