Table 2.
Frequency of clinical features in pathogenic CHD7 variant positive vs. negative patients
| Clinical Features |
Hale | Lalani 2005 | Zentner 2010 |
Bergman 2011 CHD7+ |
Sum | ||||
|---|---|---|---|---|---|---|---|---|---|
| CHD7+ | CHD7− | CHD7+ | CHD7− | CHD7+ | CHD7− | CHD7+ | CHD7− | ||
| Coloboma | 12/16 (75%) |
6/9 (67%) |
55/62 (89%) |
30/43 (70%) |
190/253 (75%) |
74/114 (65%) |
189/234 (81%) |
446/567 (79%) |
110/166 (66%) |
| Choanal atresia | 7/16 (44%) |
3/12 (25%) |
34/57 (60%) |
23/39 (59%) |
95/247 (38%) |
52/110 (47%) |
99/179 (55%) |
235/499 (47%) |
78/161 (48%) |
| Inner ear anomalies |
11/11 (100%) |
8/9 (89%) |
21/22 (95%) |
9/10 (90%) |
94/96 (98%) |
21/28 (75%) |
110/117 (94%) |
236/246 (96%) |
38/47 (81%) |
| External ear anomalies |
16/16 (100%) |
9/12 (75%) |
59/62 (95%) |
39/42 (93%) |
214/235 (91%) |
46/51 (90%) |
224/231 (97%) |
513/544 (94%) |
94/105 (90%) |
| Hearing loss | 15/16 (94%) |
11/12 (92%) |
54/59 (92%) |
36/38 (95%) |
198/223 (89%) |
83/103 (86%) |
267/298 (90%) |
130/153 (85%) |
|
| Heart defect | 12/16 (75%) |
9/12 (75%) |
54/59 (92%) |
30/42 (71%) |
193/250 (77%) |
86/120 (72%) |
191/252 (76%) |
450/577 (78%) |
125/174 (72%) |
| Genital anomalies |
9/14 (64%) 9/9 ♂ (100%♂) |
5/12 (42%) 5/5 ♂ (100%♂) |
29/53 (55%) |
26/39 (67%) |
116/187 (62%) |
46/66 (70%) |
118/145 (81%) |
272/399 (68%) |
77/117 (66%) |
| Renal anomalies |
6/13 (46%) |
6/10 (60%) |
|||||||
| Cleft lip/palate | 5/16 (31%) |
3/12 (25%) |
18/60 (30%) |
9/41 (22%) |
79/242 (33%) |
34/119 (29%) |
79/163 (48%) |
181/481 (38%) |
46/172 (27%) |
| TEF | 3/16 (19%) |
2/12 (17%) |
10/55 (18%) |
3/40 (8%) |
35/185 (19%) |
8/45 (18%) |
42/146 (29%) |
90/402 (22%) |
15/97 (15%) |
| Growth Deficiency |
11/15 (73%) |
7/12 (58%) |
101/141 (72%) |
31/33 (94%) |
35/94 (37%) |
147/250 (59%) |
38/45 (84%) |
||
| Developmental delay |
15/15 (100%) |
12/12 (100%) |
107/141 (76%) |
44/47 (94%) |
147/149 (99%) |
269/305 (88%) |
56/59 (95%) |
||
| CN dysfunction | 12/12 (100%) |
4/5 (80%) |
72/187 (39%) |
19/102 (19%) |
173/174 (99%) |
257/373 (69%) |
23/107 (21%) |
||
| Skeletal anomalies |
8/10 (80%) |
4/5 (80%) |
|||||||
| Brain anomalies | 7/14 (50%) |
3/7 (43%) |
|||||||
| Feeding difficulty |
12/15 (80%) |
10/12 (83%) |
90/110 (82%) |
102/125 (82%) |
|||||
| Immuno- deficiency |
0/1 (0%) |
1/2 (50%) |
|||||||
| Endocrine dysfunction |
4/7 (57%) |
3/5 (60%) |
|||||||
| Behavioral issues |
4/4 (100%) |
2/2 (100%) |
|||||||
Abbreviations: CN, cranial nerve; TEF, tracheo-esophageal fistula.