Table 1: Summary of Clinical Features for patients with KAT6A syndrome.
This table shows the prevalence of features in patients with KAT6A syndrome. If a feature was unknown or untested, the patient was excluded for that feature. For the purposes of this table, 2 patients with missense variants of unknown significance were excluded from this table.
| Feature | Early truncating cases - exons 1-15/full gene del (18) | Late truncating mutations - exons16 + 17 (48) | Total cases excluding missense (70) | Missense cases (6) | Total cases (76) | Extra information |
|---|---|---|---|---|---|---|
| Sex | F=8 M=10 | F=25 M=23 | F=35 M=35 | F=2 M=4 | F=37 M=39 | |
| Mutation type | Fs=10 n=7 del=1 | Fs=19 n=29 | Fs=29 n=36 s=4 del=1 | M=6 | Fs=29 n=36 m=6 s=4 del=1 | |
| SGA | 13% (2/15) | 18% (8/44) | 16% (10/62) | 0% (0/4) | 15% (10/66) | |
| Microcephaly | 6% (1/18) | 44% (20/45) | 32% (21/65) | 20% (1/5) | 31% (22/70) | |
| Presence of ID | 100% (18/18) | 100% (44/44) | 100% (65/65) | 100% (4/4) | 100% (69/69) | |
| Neonatal Hypotonia | 44% (8/18) | 85% (40/47) | 75% (52/69) | 83% (5/6) | 76% (57/75) | |
| Seizures | 12% (2/17) | 4% (2/47) | 9% (6/68) | 17% (1/6) | 9% (7/74) | No common type of seizure activity. |
| Speech delay | 100% (18/18) | 100% (44/44) | 100% (66/66) | 100% (5/5) | 100% (71/71) | |
| Strabismus | 53% (9/17) | 57% (27/47) | 56% (37/66) | 20% (1/5) | 54% (38/71) | |
| Ptosis | 17% (3/18) | 16% (7/45) | 18% (12/67) | 0% (0/6) | 16% (12/73) | |
| Visual Defect | 53% (9/17) | 68% (26/38) | 65% (37/57) | 33% (1/3) | 63% (38/60) | |
| Broad nasal tip | 89% (16/18) | 88% (35/40) | 87% (54/62) | 60% (3/5) | 85% (57/67) | Prominence of this feature may increase with age |
| Thin upper lip | 41% (7/17) | 74% (28/38) | 68% (40/59) | 50% (2/4) | 67% (42/63) | |
| Feeding difficulties | 56% (10/18) | 87% (40/46) | 79% (52/66) | 67% (4/6) | 78% (56/72) | |
| Reflux | 39% (7/18) | 71% (27/38) | 65% (35/54) | 50% (3/6) | 60% (38/60) | |
| Constipation | 25% (4/16) | 64% (18/28) | 51% (24/47) | 50% (3/6) | 51% (27/53) | |
| Congenital heart defect | 28% (5/18) | 70% (32/46) | 56% (38/68) | 0% (0/6) | 51% (38/74) | |
| Frequent Infection | 31% (5/16) | 71% (24/34) | 50% (22/44) | 20% (1/5) | 47% (23/49)* | |
| Behavioural problems | 27% (4/15) | 44% (8/18) | 33% (11/33) | 100% (3/3) | 39% (14/36)* | |
| Sleep disturbance | 19% (3/16) | 54% (15/28) | 36% (15/42) | 50% (2/4) | 37% (17/46)* |
Fs= frameshift, m= missense, n= nonsense, s= splicing, M=Male, F= Female,
*
Previous cases were not in total if feature if the information was not present in the published report or available through clinical survey.