Table 1.
Genotype–phenotype correlations in this series and individuals of the literature.
| Non-truncating Variants | Truncating Variants | |||||
|---|---|---|---|---|---|---|
| Published | Unpublished | Total | Published | Unpublished | Total | |
|
| ||||||
| General | ||||||
| Number of individuals | 7 | 9 | 16 | 13 | 14 | 27 |
| Number of variants | 6 | 9 | 15 | 12 | 10 | 22 |
| M/F | 2/5 | 6/3 | 8/8 | 10/3 | 7/7 | 17/10 |
| Median age (y) | 11.5 y (range 1.9–20 y) |
6 y (range 0.8–39 y) |
8 y (range 0.8–39 y) |
10 y (range 2.2–41 y) |
7.8 y (n.11) (range 4–29 y) |
8.9 y (range 2.2–41 y) |
| Development | ||||||
| DD and/or ID | 7/7 | 8/9 | 15/16 (93.7%) | 12/13 | 14/14 | 26/27 (96.3%) |
| Borderline or mild | 2/7 | 5/9 | 7/16 (43.7%) | 5/13 | 7/14 | 12/27 (44.4%) |
| Moderate | 3/7 | 2/9 | 5/16 (31.2%) | 6/13 | 6/14 | 12/27 (44.4%) |
| Severe | 2/7 | 0/9 | 2/16 (12.5%) | 1/13 | 1/14 | 2/27 (7.4%) |
| Profound | 0/7 | 1/9 | 1/16 (6.2%) | 0/13 | 0/14 | 0/27 (0%) |
| Unable to classify | 0/7 | 1/9 | 1/16 (6.3%) | 1/13 | 0/14 | 1/27 (3.7%) |
| Speech delay/impairment | 7/7 | 8/9 | 15/16 (93.7%%) | 13/13 | 14/14 | 27/27 (100%) |
| Unable to classify | 0/7 | 1/9 | 1/16 (6.3%) | 0/13 | 0/14 | 0/27 (0%) |
| Behaviour | ||||||
| Autism or autistic features | 3/7 | 3/9 | 6/16 (37.5%) | 7/13 | 8/14 | 15/27 (55.5%) |
| Unable to classify | 0/7 | 1/9 | 1/16 (6.2%) | 0/13 | 1/14 | 1/27 (3.7%) |
| Other behavioral/psychiatric disturbances | 3/7 | 5/9 | 8/16 (50.0%) | 7/13 | 5/14 | 12/27 (44.4%) |
| Unable to classify | 0/7 | 2/9 | 2/16 (12.5%) | 0/13 | 0/14 | 0/27 (0%) |
| Neurological | ||||||
| Epilepsy | 3/7 | 1/9 | 4/16 (25.0%) | 0/13 | 1/14 | 1/27 (3.7%) |
| Ataxia or poor balance | 2/7 | 2/9 | 4/16 (25.0%) | 3/13 | 1/14 | 4/27 (14.8%) |
| Sleep problems | 2/7 | 2/9 | 4/16 (25.0%) | 4/13 | 5/14 | 9/27 (33.3%) |
| Unable to classify | 1/7 | 2/9 | 3/16 (18.7%) | 4/13 | 1/14 | 5/27 (18.5%) |
| Imaging | ||||||
| Abnormal brain MRI | 3/7 | 1/9 | 4/16 (25.0%) | 4/13 | 1/14 | 5/27 (18.5%) |
| Normal | 2/7 | 2/9 | 4/16 (25.0%) | 3/13 | 5/14 | 8/27 (29.6%) |
| Not performed | 2/7 | 4/9 | 6/16 (37.5%) | 6/13 | 7/14 | 13/27 (48.1%) |
| Unable to evaluate | 0/7 | 2/9 | 2/16 (12.5%) | 0/13 | 1/12 | 1/27 (3.7%) |
| Facial features | ||||||
| Cupped and/or low-set ears | 4/7 | 7/9 | 11/16 (68.7%) | 13/13 | 11/14 | 24/27 (88.9%) |
| Full lips | 3/7 | 2/9 | 5/16 (31.2%) | 6/13 | 3/14 | 9/27 (30.0%) |
| Full nasal tip | 2/7 | 2/9 | 4/16 (25.0%) | 1/13 | 4/14 | 5/27 (18.5%) |
| Smooth philtrum | 1/7 | 1/9 | 2/16 (12.5%) | 1/13 | 1/14 | 2/27 (18.5%) |
| Hypertelorism | 3/7 | 2/9 | 5/16 (31.2%) | 0/13 | 3/14 | 3/27 (11.1%) |
| Slanted palpebral fissures | 1/7 | 3/9 | 4/16 (25.0%) | 1/13 | 3/14 | 4/27 (14.8%) |
| Epicanthus | 1/7 | 2/9 | 3/16 (18.7%) | 2/13 | 5/14 | 7/27 (25.9%) |
| Orthopedic | ||||||
| Distal skeletal anomalies | 4/7 | 2/9 | 6/16 (37.5%) | 6/13 | 7/14 | 13/27 (48.1%) |
| Sensory | ||||||
| Bilateral hearing loss (perceptive or mixed) | 0/7 | 1/9 | 1/16 (6.2%) | 2/13 | 1/14 | 3/27 (11.1%) |
| Conductive hearing loss | 0/7 | 1/9 | 1/16 (6.2%) | 1/13 | 4/14 | 5/27 (18.5%) |
| Vision problems | 2/7 | 2/9 | 4/16 (25.0%) | 8/13 | 5/14 | 13/27 (48.1%) |
| Recurrent variants | p.(Arg362Leu) | - | p.(Arg451Leufs*185) | p.Ser24* p.Pro133Hisfs*14 |
||
DD: developmental disorder; F: female; ID: intellectual disability; M: male; y: year.