Table 1.
Summary of the clinical data and the variants for each case
| Case | 21DG0819 | 21DG0821 | 20DG0509 | 21DG0822 | 20DG0631 | 21DG0823 | 21DG0824 | 21DG0825 |
|---|---|---|---|---|---|---|---|---|
| Variant | ||||||||
| cDNA | NM_015057.4:c.8005C>T; p.(R2669*) | NM_015057.4:c.9896T>G; p.(V3299G) | NM_015057.4:c.11840A>T;p.(D3947V) | NM_015057.4:c.11843T>A;p.(L3948Q) | NM_015057.4:c.11888C>T; p.(T3963I) | NM_015057.4:c.13647+1 G>C | NM_015057.4:c.13669C>T; p.(R4557C) | NM_015057.4:c.13406C>A;p.(T4469K) |
| Phenotype/clinic | ||||||||
| Sex | Male | Male | Male | Male | Male | Female | Male | Male |
| Age, years | 12 | 20 | 16 | 3 | 6 | 4 | 6 | 2.5 |
| Intellectual disability | Severe | No | Yes | Not formally tested | Yes | No | Moderate | N/A |
| Autism | Yes | Yes | Yes | None | Mild autistic features | None | Yes | N/A |
| Epilepsy/seizure | Seizures | None | None | Abnormal EEG | None | None | Seizures | None |
| Developmental delay | Yes | Yes | Yes | Yes | Yes | None | Yes | Yes |
| Gross-Motor | Early gross motor skills normal | No | Delayed | Motor delay | Yes | Her motor development is behind given absent leg | Yes | Yes |
| Fine-Motor | Unknown | Yes | Delayed | Motor delay | Yes | None | Yes | None |
| Speech | Currently non-verbal | Yes | Difficult to understand speech | Speech delay | Yes | None | Mostly non-verbal | Three deliberate words |
| Corpus callosum | Mild thinning | N/A | Thinning of the corpus callosum | Dysgenesis of the corpus callosum | Agenesis of corpus callosum | N/A | Unremarkable | N/A |
| Optic nerve | No abnormalities noted | Unremarkable | Unknown | None | hypoplasia of right optic nerve extending to the optic chiasma | N/A | Unremarkable | N/A |
| Optic chiasm | No abnormalities noted | Unknown | Unknown | None | Yes | N/A | Unremarkable | N/A |
| Fundus examination | No retinal involvement | No retinal involvement | Normal | Fundus oculi sharply confined | Cone dystrophy | No ophthalmology exam | Unremarkable | Retinopathy of prematurity |
| Impaired vision | Strabismus | Unknown | Left amblyopia and congenital L posterior capsule cataract | Esotropia (right), strabismus, astigmatism, and hyperopia. | Yes | No ophthalmology exam | Mild myopia and strabismus | Strabismus |
| Facial dysmorphism | Yes | Slightly large ears | Yes | Yes | Yes | Yes | Does not appear dysmorphic | Does not appear dysmorphic |
| Hearing loss (type) | Hearing believed to be normal | None | Congenital bilateral mild sensorineural hearing loss | Bilateral hearing impairment | No | None | None | None |
| Other findings | N/A | Celiac disease | Two posterior hair whorls, widows peak | N/A | Hypopituitarism and hypothyroidism | None observed | None | Mild hypospadias and bilateral inguinal hernia |