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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