Skip to main content

Table 1 The genotypes and phenotypes of Arboleba-Tham syndrome [3,4,5,6,7,8,9,10]

From: Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

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