Kennedy et al. [5] (total 76) | Urreizti et al. [7]. (total 5) | Trinh et al. [4] (total 2) | Marji et al. [8] (total 1) | Alkhateeb et al. [6] (total 1) | Efthymiou et al. [3] (total 1) | Lin et al. [9] (total 1) | Jiang et al. [10] (total 1) | Patient | Overall (total 89) | |
---|---|---|---|---|---|---|---|---|---|---|
Number of subjects (%) | ||||||||||
Genotype | ||||||||||
Frameshift | ||||||||||
Early truncating | 10 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 10/89 (11.2%) |
Late truncating | 19 | 2 | 0 | 1 | 1 | 0 | 0 | 1 | 0 | 24/89 (27.0%) |
Nonsense | ||||||||||
Early truncating | 7 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 9/89 (10.1%) |
Late truncating | 29 | 2 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 32/89 (36.0%) |
Missense | 6 | 1 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 9/89 (10.1%) |
Splicing, late truncating | 4 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 4/89 (4.5%) |
Deletion, late truncating | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1/89 (1.1%) |
Phenotype | ||||||||||
Neurological problems | ||||||||||
Microcephaly | 22 | 5 | 2 | 1 | 0 | 1 | 1 | 1 | 1 | 34/83 (41.0%) |
Developmental delay (speech) | 71 | 5 | 2 | 1 | 1 | 1 | 1 | 1 | 1 | 84/84 (100%) |
Neonatal hypotonia | 57 | 2 | 1 | ND | 1 | 1 | 1 | 0 | 0 | 63/86 (73.4%) |
Craniofacial problems | ||||||||||
Broad/prominent nasal tip | 57 | 4 | 2 | ND | 0 | 1 | 1 | 0 | 1 | 66/79 (83.5%) |
Low-set ear | 17 | 4 | 0 | ND | 0 | 0 | 1 | 0 | 1 | 23/40 (57.5%) |
Cleft palate | 3 | 0 | 0 | ND | 0 | 0 | 0 | 0 | 1 | 4/40 (10.0%) |
Congenital heart problem | ||||||||||
ASD | 25 | 2 | 0 | ND | 0 | 0 | 0 | 0 | 1 | 28/86 (32.6%) |
VSD | 6 | 0 | 0 | ND | 0 | 0 | 0 | 0 | 0 | 6/86 (7.0%) |
PDA | 14 | 0 | 0 | ND | 0 | 0 | 0 | 0 | 1 | 15/86 (17.4%) |
Other problems | ||||||||||
Feeding difficulty | 56 | 5 | 1 | ND | 1 | ND | ND | ND | 0 | 63/80 (78.7%) |
Skeletal anomaly* | 22 | 4 | 2 | 1 | ND | ND | ND | ND | 0 | 29/31 (93.5%) |