Table 1.
Clinical features of the present case compared with the previously reported patients with SHANK2 variants.
| Present Study | Caumes et al., 2020 | Zhou et al., 2019 | Guo et al., 2018 | Bowling et al., 2017 | Marcou et al., 2016 | Leblond et al., 2014 | Leblond et al., 2012 | Wischmeijer et al., 2011 | Pinto et al., 2010 | Berkel et al., 2010 | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pat.1 | Pat.1 | Pat.2 | Pat.1 | Pat.1 | Pat.1 | Pat.1 | Pat.1 | Pat.1 | Pat.1 | Pat.1 | Pat.1 | Pat.2 | Pat.3 | |
| AGE | 9 | 6 | 6 | 4 | NA | NA | 12 | NA | 11 | 8 | NA | NA | NA | NA |
| GENDER | F | M | F | M | M | NA | F | M | M | F | M | F | M | M |
| VARIANT | c.334C>T | c.1322del | c.132dup | c.2540_2541del | c.87C>G | c.1896dup | 11q13.2 to 11q13.4 | del_11q13.3q13.4 (all SHANK2 exons) | loss of exon 5-16 | del_11q13.3q13.4 (all SHANK2 exons) | del exon 5-16 | del exon 7 | del exon 7-6 | c.2521C>T |
| p.(Gln112*) | p.(Ile441Thsfs*8) | p.(Asp45Argfs*3) | p.(Ser847*) | p.(Tyr29*) | p.(Asp633Argfs*3) | p.(?) | p.(?) | p.(?) | p.(?) | p.(?) | p.(?) | p.(?) | p.(Arg841*) | |
| PATTERNS OF INHERITANCE | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo | de novo |
| SPEECH DELAY | + | + | + | + | + | + | + | + | + | + | + | + | + | NA |
| AUTISM/ASD | − | ASD | AUTISM | ASD | ASD | NA | NA | AUTISM | AUTISM | AUTISM | AUTISM | AUTISM | AUTISM | AUTISM |
| ID | − | Mild | Moderate | NA | + | Moderate | Moderate/ Severe |
Severe | Moderate | Moderate/Severe | Mild | Moderate | Mild | Moderate |
| MOTOR DELAY | − | − | − | − | − | NA | + | + | + | + | NA | + | NA | NA |
| NEUROLOGICAL SIGNS | Difficulties in mathematical calculation | Sleep and attention disorders | Anxiety | Sleep disorder | Attentional problems Febrile seizures infancy repetitive behavior | Hyperactivity | − | Oral dyspraxia Signs of cerebellar dysfunction Slight hypotonia | − | NA | Slow reaction and limited mimicry | NA | NA | |
| CLINICAL EXAMINATION | Flat profile, thick eyebrows, long eyelashes, bulbous tip and prominent columella, large and spaced teeth, retracted ears | NA | NA | NA | NA | Microcephalic Mild malar hypoplasia, mild retrognathia. Fine hair. Prominent forehead Bilateral epicanthal folds, long palpebral fissures, deep-set eyes. Broad nasal tip, depressed nasal bridge. Small mouth, down-turned corners. Wide-spaced teeth. Long slender fingers, clinodactyly. Long, slender feet, mild pes planus, piezogenic papules |
Clinodactyly Deep-set eyes strabismus and ptosis. Large ears Retrognathia Wide nasal bridge Thin upper lip | Prominent chin, hypermetropia and astigmatism | Congenital hip dysplasia, downward slanting palpebral fissures, deep-set eyes, ptosis of the left eyelid, long and fine lashes, broad nasal bridge, tubular nose with round overhanging tip and hypoplastic nares, short philtrum, small and thin upper lip, preauricular tag and small low-set simple ears |
Hypermetropia, large and prominent ears, flat feet | NA | NA | NA | |
| MRI | Normal | Normal | Normal | NA | − | NA | Normal | NA | NA | Normal | Normal | NA | NA | NA |
| EEG | Normal | NA | NA | − | − | NA | Normal | NA | Normal | Normal | NA | NA | NA | NA |
* means change in a stop codon; NA, not available; M, male; F, female; +, present; −, absent.