Table 1 Clinical characteristics of patients with CHD2 deletions a
Characteristics | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Pinto et al.[10] | Capelli et al.[9] |
|---|---|---|---|---|---|---|
Gender | F | F | F | F | M | F |
Age (yr) | 11 | 9 | 6 | 16 | Not specified | 6 |
Chr15 deletion [hg19] start–end (bp) | 93,324,047 to 93,515,100 | 93,286,333 to 93,496,391 | 93,456,168 to 93,534,338 | 93,563,564 to 93,800,894 | 93,399,003 to 93,482,000 | 93,412,860 to 93,923,856 |
Size | 191 kb | 210 kb | 78 kb | 237 kb | 83 kb | 511 kb |
RefSeq genes | CHD2, ASB9P1, LOC100507217, MIR3175 | CHD2, ASB9P1, LOC100507217, MIR3175 | CHD2 | CHD2, RGMA | CHD2, LOC100507217, MIR3175 | CHD2, RGMA, LOC100507217, MIR3175 |
Inheritance | De novo | De novo | De novo | De novo | De novo | De novo |
Development | Motor delay | Communication disorder (receptive and expressive language difficulties) | Globally delayed | Globally delayed with more significant speech delay | Unknown | Globally delayed |
Speech delay | Speech impairment | |||||
Cognition | Learning disability | Learning disability | ID | ID | ID | Unknown |
Short-term memory problems | Short-term memory problems | |||||
Visual perceptual disability | ||||||
Behaviour | Short attention span | ADHD | Aggressive, impulsive, repetitive behaviours | ASD | ASD | Autistic behaviour |
Limited social skills | Aggressive behaviour | |||||
Aggressive behavior | Short attention span | |||||
Limited social skills | ||||||
Seizure type (age of onset) | Jeavons syndrome | Absence seizures (3 yr) | No epilepsy | Complex partial and generalised seizures | No epilepsy | Unspecified seizures (2 yr) |
Absence seizures | ||||||
Eyelid myoclonia (6 yr) | ||||||
Brain MRI | Normal | Not done | Normal | Normal | Altered angular gyrus | No severe abnormalities |
Other | Mild hypotonia | Mild hypotonia | Mild hypotonia | Tourette’s syndrome | Gait ataxia | |
Feeding difficulties | Feeding difficulties | Slight hypotonia | ||||
Dysmorphic features | Square-shaped face | Triangular face | Brachycephaly | Protruding ears | Facial gestalt suggestive of Angelman syndrome | |
Prominent forehead | Broad forehead | Micrognathia | ||||
High forehead | Short nose, upturned tip | |||||
Full lips | ||||||
Prominent columella | Widely spaced central maxillary incisors | Wide mouth | ||||
Widely spaced teeth | ||||||
Short philtrum | ||||||
Fifth-finger brachydactyly | Micrognathia | Prognathia | ||||
Syndactyly of toes 2 and 3 | ||||||
Other features | Mild thoracic scoliosis | Reduced body fat mass | Strabismus | Mild thoracic scoliosis | Strabismus | |
PIP joint fusion of thumbs | ||||||
Mild peripheral hearing loss (higher frequencies) | ||||||
Duplex kidney |