| |
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%)
|
- *Skeletal anomalies include clinodactyly, camptodactyly, brachydactaly, arthrogyposis, scoliosis, torticollis, kyphosis, craniosynostosis, and congenital hip dysplasia
- Percentages were calculated excluding unknown numbers. ND, not described; ASD, atrial septal defect, VSD, ventricular septal defect; PDA, patent ductus arteriosus
