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Table 2 Clinical overview of KAT6A syndromic patients

From: Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

 This reportTrinhet al. 2018 [12]Efthymiou et al. 2018 [15]Alkhateeb et al. 2019 [14]Kennedy et al. 2019 [13]Total
FeaturesLTaMbMLTLTETLTMETLTMOverall%
Protein change2FS; 2NSp.G359Sp.N1975Sp.S1113*p.K1130 fs*10FS; 7NS; 1del19FS; 29NS6MS10FS; 7NS; 1del13FS; 38NS8MS  
Gender (F/M)2/20/11/10/10/18/1025/232/48/1027/273/638/43 
Perinatal features
 Small for gestational age2/40/12/2NR0/12/158/440/42/1510/492/714/7120
 Feeding difficulties/failure to thrive4/41/11/11/11/110/1840/464/610/1846/526/862/7879
 Neonatal complications (low Apgar scores, espiratory distress …)1/40/1NR0/10/10/14/5NR0/15/11NR5/1242
Neurological features
 Global developmental delay/Intellectual disability4/41/12/21/11/118/1844/444/418/1850/507/775/75100
 Speech delay/Absent speech4/41/11/21/11/118/1844/445/518/1850/507/875/7699
 Unstable/abnormal gait4/41/10/21/11/1 1/3NR0/07/91/38/1267
 Neonatal hypotonia2/41/11/11/1NR8/1840/475/68/1843/527/858/7874
 Seizures2/41/11/21/10/12/172/471/62/175/533/910/7913
 Sleep disturbance1/41/1NRNRNR3/1615/282/43/1616/323/522/5342
 Autistic behavior/behavioral problems2/31/1NRNRNR4/158/183/34/1510/214/418/4045
Craniofacial features
 Microcephaly4/41/12/21/10/11/1820/451/151/1825/511/527/7436
 Frontal bossing/large forehead1/41/1NR1/10/10/11/4NR0/13/101/14/1233
 Bitemporal narrowing1/40/10/21/10/1NR3/3NRNR5/90/35/1242
 Ear anomalies (large, low set, rotated, small earlobe …)4/41/1NR1/1NRNR9/110/1NR14/161/215/1883
 Palpebral ptosis1/40/11/20/1NR3/187/450/63/188/501/912/7716
 Eye anomalies (proptosis, hypertelorism, deep set,)4/41/12/21/11/1NR3/81/10/09/144/413/1872
 Epicanthal folds2/41/10/2NR0/1NR2/70/10/04/121/45/1631
 Broad/bulbose nasal tip4/40/12/21/10/116/1835/403/516/1840/465/861/7285
 Thin upper lip0/40/12/20/11/17/1728/382/47/1729/444/740/6859
 Micrognathia0/40/10/20/10/1NR6/120/10/06/180/46/2227
Ocular problems
 Strabismus4/40/12/2NRNR9/1727/471/59/1731/513/843/7657
 Visual defects4/40/12/2NRNR9/1726/381/39/1730/423/642/6565
Other features
 Congenital heart defect4/40/10/2NR0/15/1832/460/65/1836/510/941/7853
 Reflux2/40/1NRNRNR7/1827/383/67/1829/423/739/6758
 Constipation1/40/11/2NRNR4/1618/283/64/1619/324/927/5747
 Recurrent infections1/40/1NRNRNR5/1624/341/55/1625/381/631/6052
  1. AF Anterior fontanelle, CVI Cortical visual impairment, Del Deletion, ET Early truncating, FS Frameshift, GERD Gastroesophageal reflux disease, LT Late truncating, M Missense, NR not reported, NS nonsense, PDA Patent ductus arteriosus; Features present in more than 60% of the patients are indicated in bold with % of the total
  2. a Patients 1–3 and 5. b Patient 4