Table 1.
Features of the AUTS2 syndrome depending on region of the deletion2
| Cases | Our case | Beunders' cases | |||||
|---|---|---|---|---|---|---|---|
| Exon deleted | 8 | 1 to 5 | 6 to 19 (c terminal) | all | |||
| Number of the patients | 1 | 7 | 10 | 2 | |||
| Growth and feeding | |||||||
| Low birth weight | + | 1/7 | 14% | 4/10 | 40% | 1/2 | 50% |
| Short stature <p10a | + | 1/7 | 14% | 9/10 | 90% | 1/2 | 50% |
| Microcephaly <p2b | + | 3/7 | 43% | 8/10 | 80% | 1/2 | 50% |
| Feeding difficulties | + | 1/7 | 14% | 6/10 | 60% | 1/2 | 50% |
| Neurodevelopmental disorders | |||||||
| Intellectual disability | + | 6/7 | 86% | 10/10 | 100% | 1/2 | 50% |
| Autism/autistic behavior | + | 2/7 | 29% | 3/10 | 30% | 0/2 | 0% |
| Sound sensitivity | + | 0/7 | 0% | 0/10/ | 0% | 2/2 | 100% |
| Hyperactivity/ADHD | + | 0/7 | 0% | 2/10 | 20% | 1/2 | 50% |
| Other | − | 1/7 | 14% | 2/10 | 20% | 0/2 | 0% |
| Neurological disorders | |||||||
| General hypotonia | − | 1/7 | 14% | 4/10 | 40% | 1/2 | 50% |
| Structural brain anomaly | − | 1/7 | 14% | 2/10 | 20% | 0/2 | 0% |
| Cerebral palsy/spasticity | − | 1/7 | 14% | 6/10 | 60% | 2/2 | 100% |
| Other | − | 1/7 | 14% | 2/10 | 20% | 0/2 | 0% |
| Dysmorphic feature | |||||||
| Highly arched eyebrows | + | 1/7 | 14% | 6/10 | 60% | 0/2 | 0% |
| Hypertelorism | − | 0/7 | 0% | 7/10 | 70% | 1/2 | 50% |
| Proptosis | − | 1/7 | 14% | 5/10 | 50% | 0/2 | 0% |
| Short palpebral fissures | − | 2/7 | 29% | 3/10 | 30% | 1/2 | 50% |
| Up slanting palpebral fissures | − | 0/7 | 0% | 1/10 | 10% | 1/2 | 50% |
| Ptosis | − | 2/7 | 29% | 5/10 | 50% | 0/2 | 0% |
| Epicanthal fold | − | 1/7 | 14% | 5/10 | 50% | 0/2 | 0% |
| Strabismus | − | 2/7 | 29% | 3/10 | 30% | 0/2 | 0% |
| Prominent nasal tip | − | 0/7 | 0% | 4/10 | 40% | 0/2 | 0% |
| Anteverted nares | − | 0/7 | 0% | 2/10 | 20% | 0/2 | 0% |
| Deep/broad nasal bridge | + | 1/7 | 14% | 3/10 | 30% | 2/2 | 100% |
| Short/upturned philtrum | − | 2/7 | 29% | 4/10 | 40% | 1/2 | 50% |
| Micro/retrognathia | + | 1/7 | 14% | 5/10 | 50% | 1/2 | 50% |
| Low‐set ears | + | 0/7 | 0% | 5/10 | 50% | 0/2 | 0% |
| Ear pit | − | 0/7 | 0% | 2/10 | 20% | 0/2 | 0% |
| Narrow mouth | + | 3/7 | 43% | 6/10 | 60% | 1/2 | 50% |
| Other | + | 1/7 | 14% | 5/10 | 50% | 2/2 | 100% |
| Skeletal disorders | |||||||
| Kyphosis/scoliosis | − | 0/7 | 0% | 2/10 | 20% | 0/2 | 0% |
| Arthrogryposis/shallow palmar creases | − | 0/7 | 0% | 2/10 | 20% | 0/2 | 0% |
| Tight heel cords | − | 0/7 | 0% | 2/10 | 20% | 2/2 | 100% |
| Other | − | 1/7 | 14% | 3/10 | 30% | 1/2 | 50% |
| Congenital malformations | |||||||
| Hernia umbilicalis/inguinalis | + | 0/7 | 0% | 2/10 | 20% | 0/2 | 0% |
| Patent foreman ovale/atrial septum defect | − | 1/7 | 14% | 1/10 | 10% | 1/2 | 50% |
| Other | − | 2/7 | 29% | 3/10 | 30% | 1/2 | 50% |
| Median AUTS2 syndrome severity score (range) | 15 | 5 (0‐11) | 12 (8‐22) | 11 (7‐16) | |||
a
Short stature is defined as height below the tenth percentile.
b
Microcephaly is defined as skull size below the second percentile.