Table 2. Clinical characteristics of the patients carrying de novo SHANK2 and SHANK3 mutations.
| Patients | ||||||
| SHANK2 | SK0217-003 | 6319_3 | AU038_3 | RDB_30769 | AUL_001 | Wischmeijer et al. 2010 |
| Pinto et al. 2010 | Pinto et al. 2010 | Leblond et al. 2012 | This study | This study | Wischmeijer et al. 2010 | |
| Sex | M | M | M | M | M | F |
| Mutation | CNV_del (66 kb) | CNV_del (68 kb) | CNV_del (421 kb) | CNV_del (1.8 Mb) | Translocation | CNV_del (3.4 Mb) |
| Loss of exon 6 & 7 | Loss of exon 14 & 15 | Loss of exon 5 to 16 | del_11q13.3q13.4 (all SHANK2 exons) | t(1;7;11)(p35;q33;q12)dn; breakpoint in SHANK2 (intron 14) | del_11q13.2q13.4 (all SHANK2 exons) | |
| De novo | De novo | De novo | De novo | De novo | De novo | |
| Diagnosis and cognitive development | Autism | Autism | Autism | Autism | Autism | Autism |
| Early DD (mild motor & language delay) | Early DD (mild motor & language delay) | Early DD (mild motor & language delay) | Global DD | Global DD | Global DD | |
| Mild ID/verbal | Mild ID/verbal | Mild ID/verbal | Severe ID/non verbal | Severe ID/non verbal | Severe ID/non verbal | |
| Neonatal hypotonia | Neonatal hypotonia | Neonatal hypotonia | ||||
| Dismorphic signs | Clinodactyly (5th fingers) | Large ears | Clinodactyly (5th fingers) | Clinodactyly (5th fingers) | Clinodactyly (5th fingers) | Deep-set eyes & epicanthus |
| Large ears | Pointed chin | Deep-set eyes | Deep-set eyes | Deep-set eyes & epicanthus | Long eyelashes & ptosis | |
| Long eyelashes | Wide nasal bridge | Large ears | Strabismus & ptosis | Large ears | Wide nasal bridge | |
| Wide nasal bridge | Retrognathia | Pointed chin | Large ears | Wide nasal bridge | Thin upper lip | |
| Retrognathia | Retrognathia | Long eyelashes | Retrognathia | |||
| Wide nasal bridge | Wide nasal bridge | Retrognathia | Clinodactyly (5th fingers) & syndactylia (2nd–3rd) | |||
| Thin upper lip | Thin upper lip | |||||
| Motor signs | Oral dyspraxia | Oral dyspraxia | Oral dyspraxia | Oral dyspraxia | ||
| Slight hypotonia | Slight hypotonia | Slight hypotonia | Slight hypotonia | |||
| Signs of cerebellar dysfunction (dysmetry & dysdiadochokinesis) | Signs of cerebellar dysfunction (dysmetry & dysdiadochokinesis) | Signs of cerebellar dysfunction (dysmetry & dysdiadochokinesis) | ||||
a
Mutations not present in the mother and father not tested (DNA unavailable). M, Male; F, Female; CNV, Copy Number Variant; del, deletion; CSV, Coding-Sequence Variant; DD, developmental delay; ID, intellectual disability; GTCS, Generalized Tonic-Clonic Seizures; AAO, Age at onset; y, years; SD, Standard Deviation.