Table 2 Clinical overview of KAT6A syndromic patients
This report | Trinhet al. 2018 [12] | Efthymiou et al. 2018 [15] | Alkhateeb et al. 2019 [14] | Kennedy et al. 2019 [13] | Total | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Features | LTa | Mb | M | LT | LT | ET | LT | M | ET | LT | M | Overall | % |
Protein change | 2FS; 2NS | p.G359S | p.N1975S | p.S1113* | p.K1130 fs* | 10FS; 7NS; 1del | 19FS; 29NS | 6MS | 10FS; 7NS; 1del | 13FS; 38NS | 8MS | ||
Gender (F/M) | 2/2 | 0/1 | 1/1 | 0/1 | 0/1 | 8/10 | 25/23 | 2/4 | 8/10 | 27/27 | 3/6 | 38/43 | |
Perinatal features | |||||||||||||
Small for gestational age | 2/4 | 0/1 | 2/2 | NR | 0/1 | 2/15 | 8/44 | 0/4 | 2/15 | 10/49 | 2/7 | 14/71 | 20 |
Feeding difficulties/failure to thrive | 4/4 | 1/1 | 1/1 | 1/1 | 1/1 | 10/18 | 40/46 | 4/6 | 10/18 | 46/52 | 6/8 | 62/78 | 79 |
Neonatal complications (low Apgar scores, espiratory distress …) | 1/4 | 0/1 | NR | 0/1 | 0/1 | 0/1 | 4/5 | NR | 0/1 | 5/11 | NR | 5/12 | 42 |
Neurological features | |||||||||||||
Global developmental delay/Intellectual disability | 4/4 | 1/1 | 2/2 | 1/1 | 1/1 | 18/18 | 44/44 | 4/4 | 18/18 | 50/50 | 7/7 | 75/75 | 100 |
Speech delay/Absent speech | 4/4 | 1/1 | 1/2 | 1/1 | 1/1 | 18/18 | 44/44 | 5/5 | 18/18 | 50/50 | 7/8 | 75/76 | 99 |
Unstable/abnormal gait | 4/4 | 1/1 | 0/2 | 1/1 | 1/1 | 1/3 | NR | 0/0 | 7/9 | 1/3 | 8/12 | 67 | |
Neonatal hypotonia | 2/4 | 1/1 | 1/1 | 1/1 | NR | 8/18 | 40/47 | 5/6 | 8/18 | 43/52 | 7/8 | 58/78 | 74 |
Seizures | 2/4 | 1/1 | 1/2 | 1/1 | 0/1 | 2/17 | 2/47 | 1/6 | 2/17 | 5/53 | 3/9 | 10/79 | 13 |
Sleep disturbance | 1/4 | 1/1 | NR | NR | NR | 3/16 | 15/28 | 2/4 | 3/16 | 16/32 | 3/5 | 22/53 | 42 |
Autistic behavior/behavioral problems | 2/3 | 1/1 | NR | NR | NR | 4/15 | 8/18 | 3/3 | 4/15 | 10/21 | 4/4 | 18/40 | 45 |
Craniofacial features | |||||||||||||
Microcephaly | 4/4 | 1/1 | 2/2 | 1/1 | 0/1 | 1/18 | 20/45 | 1/15 | 1/18 | 25/51 | 1/5 | 27/74 | 36 |
Frontal bossing/large forehead | 1/4 | 1/1 | NR | 1/1 | 0/1 | 0/1 | 1/4 | NR | 0/1 | 3/10 | 1/1 | 4/12 | 33 |
Bitemporal narrowing | 1/4 | 0/1 | 0/2 | 1/1 | 0/1 | NR | 3/3 | NR | NR | 5/9 | 0/3 | 5/12 | 42 |
Ear anomalies (large, low set, rotated, small earlobe …) | 4/4 | 1/1 | NR | 1/1 | NR | NR | 9/11 | 0/1 | NR | 14/16 | 1/2 | 15/18 | 83 |
Palpebral ptosis | 1/4 | 0/1 | 1/2 | 0/1 | NR | 3/18 | 7/45 | 0/6 | 3/18 | 8/50 | 1/9 | 12/77 | 16 |
Eye anomalies (proptosis, hypertelorism, deep set,) | 4/4 | 1/1 | 2/2 | 1/1 | 1/1 | NR | 3/8 | 1/1 | 0/0 | 9/14 | 4/4 | 13/18 | 72 |
Epicanthal folds | 2/4 | 1/1 | 0/2 | NR | 0/1 | NR | 2/7 | 0/1 | 0/0 | 4/12 | 1/4 | 5/16 | 31 |
Broad/bulbose nasal tip | 4/4 | 0/1 | 2/2 | 1/1 | 0/1 | 16/18 | 35/40 | 3/5 | 16/18 | 40/46 | 5/8 | 61/72 | 85 |
Thin upper lip | 0/4 | 0/1 | 2/2 | 0/1 | 1/1 | 7/17 | 28/38 | 2/4 | 7/17 | 29/44 | 4/7 | 40/68 | 59 |
Micrognathia | 0/4 | 0/1 | 0/2 | 0/1 | 0/1 | NR | 6/12 | 0/1 | 0/0 | 6/18 | 0/4 | 6/22 | 27 |
Ocular problems | |||||||||||||
Strabismus | 4/4 | 0/1 | 2/2 | NR | NR | 9/17 | 27/47 | 1/5 | 9/17 | 31/51 | 3/8 | 43/76 | 57 |
Visual defects | 4/4 | 0/1 | 2/2 | NR | NR | 9/17 | 26/38 | 1/3 | 9/17 | 30/42 | 3/6 | 42/65 | 65 |
Other features | |||||||||||||
Congenital heart defect | 4/4 | 0/1 | 0/2 | NR | 0/1 | 5/18 | 32/46 | 0/6 | 5/18 | 36/51 | 0/9 | 41/78 | 53 |
Reflux | 2/4 | 0/1 | NR | NR | NR | 7/18 | 27/38 | 3/6 | 7/18 | 29/42 | 3/7 | 39/67 | 58 |
Constipation | 1/4 | 0/1 | 1/2 | NR | NR | 4/16 | 18/28 | 3/6 | 4/16 | 19/32 | 4/9 | 27/57 | 47 |
Recurrent infections | 1/4 | 0/1 | NR | NR | NR | 5/16 | 24/34 | 1/5 | 5/16 | 25/38 | 1/6 | 31/60 | 52 |