Table 1.
Features of individuals with deletions including TBR1
| Features | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Langer et al. [2006] | Krepischi et al. [2010] | Krepischi et al. [2010] | Takatsuki et al. [2010] | Magri et al. [2011] | Palumbo et al. [2010] |
|---|---|---|---|---|---|---|---|---|---|---|
| Patient 1 | Patient 3 | |||||||||
| Sex | male | male | male | male | female | female | female | female | male | female |
| Age, years | 11.5 | 8 | 33 months | 16 months | 2 years 8 months | 14 | 5 | 5 months | 3.5 | 3 |
| Minimum deletion coordinates (hg18) | 159,392,858–162,536,161 | 161,813,983–163,980,679 | 161,919,306–166,011,752 | 159,307,955–171,648,560 | 159,108,825–171,723,298 | 156,469,445–162,877,841 | 160,937,947–167,531,521 | 160,332,614–167,824,700 | 159,618,452–164,882,054 | 155,526,470–163,058,894 |
| Deletion size, Mb | 3.14 | 2.17 | 4.09 | 12.34 | 12.61 | 6.41 | 6.59 | 7.49 | 5.26 | 7.53 |
| Number of genes | 15 | 9 | 16; includes | 64; includes | 65; includes | 31 | 27; includes | 33; includes | 22 | 33 |
| SCN2A | SCN1A | SCN1A | SCN1A | SCN1A | ||||||
| Inheritance | unknown | de novo | de novo | unknown | de novo | de novo | de novo | de novo | de novo | de novo |
| Growth features | ||||||||||
| Birth weight | ||||||||||
| percentile | 10th–25th | 25th–50th | 50th–75th | 3rd | 15th | <3rd | 50th | <3rd (−2.4 SD) | 3rd | 50th |
| Weight percentile | <3rd (−4.2 SD) | 95th | <3rd(−2.1 SD) | <3rd (−5 SD) | 80th | 50th–75th | NS | <3rd (−2.3 SD) | NS | 25th |
| Height percentile | 5th–10th | 71st | 3rd–10th | <3rd (−4 SD) | 50th | <3rd (−2.3 SD) | NS | 3rd–10th | 10th | 50th |
| OFC percentile | 2nd | 51st | 10th−25th | <3rd (−7.2 SD) | 3rd | 5th | <3rd (−4.3 SD) | NS | NS | 10th |
| Neurological features | ||||||||||
| DD/ID | moderate | + | + | severe | severe | + | profound | + | severe | + |
| Speech | apraxia; nasal voice | no speech; uses signs | single word | no speech | no speech | no speech | no speech | NA | NS | first words at 3 years |
| Behavior problems | ADHD; some perseverations | PDD; tantrums; hyperactivity | autistic-like | NA | − | autistic | − | NA | − | − |
| Hypotonia | + | + | + | − | + | − | moderate | + | severe | generalized |
| Seizures | staring spells at 5 years | − | − | onset 11 week, infantile spasms and complex partial seizures, intractable | onset 3.5 months, initially 40 daily | onset 10 years, tonic-generalized | onset 2 months, intractable epilepsy, varied seizure types | at 2 months, continuous myoclonic jerks, intractable; at 3 months, tonic-clonic | − | − |
| EEG | normal | abnormal | NA | abnormal | NS | abnormal | abnormal | NS | NA | NA |
| Brain malformations | mega cisterna magna, mild ventriculomegaly | thick CC, mild ventriculomegaly | Chiari I, thick CC, mild ventriculomegaly | Chiari I, possible cortical dysplasia, mild ventriculomegaly | ultrasound: lack of homogeneity around thalamus | normal MRI | normal MRI | NS | normal ultrasound | normal MRI |
| Other | ataxic gait | bruxism | ||||||||
| Ophthalmologic | − | strabismus, | intermittent | bilateral | microphthalmia, | − | bilateral | − | − | − |
| features | surgically | left esotropia | colobomas | coloboma, | coloboma | |||||
| repaired | blepharophimosis | |||||||||
| Dysmorphic features | ||||||||||
| Head | − | facial asymmetry | − | craniosynostosis | bulging metopic suture | − | brachycephaly | − | flat occiput, fine hair, prominent forehead | − |
| Auricular region | − | − | small and low-set ears | low-set and rotated ears | low-set and rotated ears | − | − | low-set ears | − | − |
| Periocular region | − | downslanting PF | epicanthal folds, short PF | small and downslanting PF | short and downslanting PF, hypertelorism | − | − | thick and arched eyebrows, upslanting PF, long eyelashes | sparse eyebrows | − |
| Midface | − | wide alae nasi | − | − | broad nasal root | − | thin nose, depressed and broad nasal bridge, anteverted nares | flat nasal bridge, short nose | − | − |
| Perioral region | − | − | − | retrognathia | − | − | short philtrum | long philtrum, small mouth, micrognathia | large mouth, short philtrum, micrognathia | − |
| Limb features | hyperextensible elbows | turned-in foot | tapered fingers; joint laxity | brachydactyly; STPC | − | small feet and hands, tapered fingers, valgus feet, abduction of upper limbs | tapered fingers | − | camptodactyly of the hallux; joint laxity | − |
| Respiratory features | frequent infections | normal | − | respiratory failure | central apnea | − | recurrent infections due to swallowing difficulties | emphysema caused by viral infection | − | − |
| Gastrointestinal features | dysphagia | GERD | GERD, resolved | G-tube feedings | − | − | − | − | − | − |
| Endocrine features | − | − | − | hypothyroidism | − | − | hypothyroidism | − | − | − |
| Other features | t(7;10)(q22;q26) | wide-spaced nipples, chordee | displaced anus | hypotrophic muscles | hip dislocation |
+ = Feature present; − = feature absent; ADHD = attention deficit hyperactivity disorder; CC = corpus callosum; GERD = gastroesophageal reflux disease; ID = intellectual disability; NA = not applicable; NS = not specified; PDD = pervasive developmental disorder; PF = palpebral fissures; SD = standard deviations; STPC = single transverse palmar crease.