Authors | Kalscheuer et al. [23] | Bakkaloglu et al. [24] | Huang et al. [25] | Nagamani et al. [13] | Jolley et al. [12] | Amarillo et al. [6] | Liu et al. [26] | Schneider et al. [27] | Fan et al. (2015) [14] | Beunders et al. [11] | Beunders et al. [18] | Sengun et al. [28] | Saeki et al. (2019) | This report | |
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Group / family | Monozygotics twins | Unrelated | Indiv. | Indiv. | Unrelated (2); Siblings (2) | Indiv. | Indiv. | Indiv. | Indiv. | Unrelated | Unrelated | Unrelated (11) et family (2) | Indiv. | Indiv. | Family |
Number | 2 | 3 | 1 | 1 | 4 | 1 | 1 | 1 | 1 | 3 | 2 | 13 | 1 | 1 | 4 |
Sex | F (2/2) | M (2/3), F (1/3) | M | M | M (1/1), F (2/3) | M | F | M | M | M (1/3), F (2/3) | M (2/2) | M (5/13) F (8/13) | F | M | M (1/4), F (3/4) |
Mean age (years) and standard deviation | 16 (0) | 4, 27, 17 | 4.5 (0) | 4.7 (0) | 10 3 10 3 | 13 (0) | 4.5 (0) | 4 | 8.4 (0) | 8 8.5 6 | 20, 24 | 6 16 7 28 40 23 5 10 59 38 5 1? | 68 (0) | 8 (0) | 13 45 49 50 |
Genetic alteration involving AUTS2 | |||||||||||||||
Deletion / Duplication / Mutation | Breakpoint between exons 2 and 3 t(7;20) (q11.2;p11.2) t(7;20) (q11.2;p11.2) | Breakpoint between exons 2–5; 5–6; 5–7 (Transloc.) | Breakpoint within intron 5 inv. (7)(q11.22q35);inv. (7) | Breakpoint within intron 1 (Transloc.) | Deletion of exon 6–14(×2); and duplication of exon 5(× 2) Size: 133 to 319; 179 (2) | Deletion of exon 3–6 o.(Gln107*) Size: 683–806 | Deletion of exon 6 Size: 62 | Distal deletion of exon 1 Size: 830 | Breakpoint between intron 2 and 6, size 89 (Transloc.) | Deletion of exon 6(×2); 12–19(×1), Size: 98; 2147; 262 | Deletion of exon 7; 6 p.(Lys286fs) / chr7.hg 19:g.(69985843_69991859)_(70,221,259_70,228,020)del | Deletions of exon 2–4 (× 2); 5(×3); 1–5(× 1); 6(× 2); 6–9(× 1); 9 fs(× 1);7st(× 1); 15–17; all deleted Size: 50 to 4.5 Mb | Deletion of exon 6 and flanking introns 5 and 6 Size: 257 | Deletion of exon 8 (p.Tyr488*) (3b) | Duplication of exon 11–19 p.(Met593Tyrfs*85) |
Inherited / De novo | De novo | De novo (3) | De novo | De novo | De novo (1) Inherited (2) Parent not available (1) | De novo | De novo | De novo | De novo | De novo (3) | De novo | De novo (9) Not available (2) Inherited (2) | Not available | De novo | Inherited |
Neurodevelopment | |||||||||||||||
Developmental delay | 2/2 | 1/3 (2/3 na) | 1/1 | 1/1 | 4/4 | 1/1 | 1/1 | 1/1 | 3/3 | 3/3 | 2/2 | + (9/13) | 1/1 | 1/1 | 2/4 |
Intellectual Deficiency | Severe (2/2) | Severe (1/3) Borderline (1/3) Moderate (1/3) | 1/1 (type na) | na | DQ: 5-year-old at 10 (1/4) Vocabulary: 3 words at 3 (1/4) Mild-moderate (2/4) | Intellectual disability (na) | na (“no full sentances”) | DQ: significantly delayed; Developmental age: 11 months (at 4 years old) | Developmental age: 4 years (at 8 years | IQ below 40 (2/3) IQ below 45 (1/3) | Moderate intellectual disability, IQ 45 (1/2) IQ between 60 and 70 (1/2) | Mild borderline (5/13) Mild (3/13) Moderate (5/13) | Mild-Moderate | 1/1 (type na) | Severe (1/4) Mild-Moderate (1/4) |
ASD | 2/2 | ? | 1/1 | 1/1 | 2/4 (related) | 0/1 | ? | 1/1 | 2/3 | 2/3 | 2/2 | 10/13 | 1/1 | 1/1 | 2/4 |
ADHD | na | 2/2, na | na | na | na | 0/1 | – | 1/1 | 3/3 | 3/3 | 1/2 | 7/13 | 1/1 | 1/1 | – |
Neurological disorders | |||||||||||||||
Generalized hypotonia | na | 3/3 | 1/1 | – | 4/4 | 1/1 | – | 1/1 | 1/3 | 1/3 | – | 5/13 | 1/1 | – | 2/4 |
Structural brain anomaly | - (EEG) | 1/1, na (2) | 1/1 | na | 0/2; na (2) | 0/1 | – | – | 1/3 | 1/3 | – | 1/13 | – | – | – |
Hypertonia/spasticity | 1/2 | 1/3 | na | – | na | na | 1/1 | 1/1 | – | – | – | 7/13 | na | – | – |
Epilepsy | 2/2 | 1/3 | – | – | 1/4 | - (one seizure) | – | Na (EEG normal) | 2/3 | 2/3 | na | 2/13 | – | na | – |
Growth | |||||||||||||||
Low birth weight < p3 | 0/2 | – | – | – | na | – | – | – | – | – | 1/2 | – | na | 1/1 | – |
Short stature < p10 | 2/2 | 3/3 | – | – | 1/3; na (1) | 1/1 | – | 1/1 | 2/3 | 2/3 | 1/2 | 12/13 | 1/1 | 1/1 | 4/4 |
Microcephaly < p2 | 1/2 | na | na | na | 1/4 | 1/1 | – | – | 1/3 | 1/3 | 2/2 | 10/12 | 1/1 | 1/1 | – |
Feeding problems | na | 3/3 | 1/1 | – | na | 1/1 | na | 2/3 | 2/2 | 11/13 | 1/1 | 1/1 | 1/4 | ||
Sleep disturbance | na | 1/3 | na | na | na | na | na | na | na | 1/13 | na | na | 1 or 2/4 | ||
Dysmorphic features | ? | + (2/3) | – | + (1/1) | + (3/4) | + (1/1) | – | – | + (3/3) | + (3/3) | + (2/2) | + | + (1/1) | + (1/1) | 4/4 |
Skeletal abnormalities (Kyphosis/scoliosis or feet deformities) | + (2/2) | + (1/3) | na | na | 1/4 | na | + (1/1) | – | 1/3 | 1/3 | + (2/2) | + (5/13) | + (1/1) | - (1/1) | + (4/4) |