Table 1.
Clinical Features of Individuals with CSPP1 Mutations in the Indicated Families
|
Family ID |
||||||
|---|---|---|---|---|---|---|
| MTI-136 | MTI-159 | MTI-1342 | MTI-1561 | MTI-2109 | MTI-2201 | |
| Country of origin | Mexico | United States | India | China | Libya | Egypt |
| Gender | male | female | male | male | male | female |
| Consanguinity | − | − | + | − | + | + |
| cDNA mutation | c.652C>T | c.[950+1G>C];[3205+1G>A] | c.2243_2244delAA | c.[2260C>T];[457delA] | c.2773C>T | c.448C>T |
| Protein alteration | p.Gln218∗ | splice; splice | p.Glu750Glyfs∗30 | p.[Arg754∗];[Arg153Glyfs∗35] | p.Arg925∗ | p.Gln150∗ |
| Neurological Findings | ||||||
| Hypotonia | + | + | + | + | + | + |
| Ataxia | + | + | + | − | − | − |
| Psychomotor delay | + | + | + | + | + | + |
| Intellectual disability | + | + | + | − | + | + |
| Breathing abnormalities | − | + | + | − | + | + |
| Seizures | − | − | − | − | − | − |
| Macrocephaly | − | − | − | − | − | − |
| Ophthalmologic Findings | ||||||
| Retinopathy | + | − | − | − | − | − |
| Coloboma | − | − | − | − | − | − |
| Oculomotor apraxia | + | + | + | − | − | + |
| Nystagmus | + | + | − | − | + | + |
| Other | bilateral ptosis | − | − | bilateral ptosis | bilateral ptosis and exotropia | bilateral ptosis |
| Miscellaneous Findings | ||||||
| Nephronophthisis | − | − | − | NA | − | − |
| Hepatic fibrosis | NA | − | − | NA | − | − |
| Polydactyly | − | − | − | − | − | − |
| Obesity | + | − | − | − | − | − |
| Other | mild SNHL | − | exitus due to pneumonia | moderate SNHL | vesicoureteral reflux | − |
| Cranial MRI Findings | ||||||
| Molar tooth sign | + | + | + | + | + | + |
| Cerebellar vermis dysgenesis | + | + | + | + | + | + |
| Hypoplasia of the brainstem | + | + | − | + | − | − |
| Occipital meningocele | − | − | − | − | − | − |
| Thin corpus callosum | + | − | NA | + | + | NA |
The following abbreviations are used: NA, not available; and SNHL, sensorineural hearing loss.