Table 1.
Summary of Clinical and Mutations Data for the Study Cohort
| Case ID | 17DG0722 (Family 1_V:1) | 12DG2038 (Family 2_V:1) | 12DG0596 (Family 3_II:4) | MTI-2230 (Family 4_IV:3) |
|---|---|---|---|---|
| Variant | c.356_357delAG (p.Lys119Ilefs∗18) | c.356_357delAG (p.Lys119Ilefs∗18) | c.356_357delAG (p.Lys119Ilefs∗18) | c.439C>T (p.Gln147∗) |
| Age (Year) | 2 | 17 | 3 | 4 |
| Gender | M | M | M | M |
| Ethnicity | Arab | Arab | Arab | Turkish |
| Consanguinity | y | y | y | y |
| DD/ID | y | y | y | y |
| OMA/strabismus | y | y | y | y |
| Ptosis | y | y | y | y |
| Polydactyly | y | y | y | y |
| MTS on MRI | n | very mild | N/A | y |
| Others | Joubert facies (prominent forehead, high and rounded eyebrows, upturned nose, anteverted nares, open mouth) | NSHL, normal ERG | macrocephaly (enlarged lateral ventricles on CT), grossly narrow chest with severe pectus carinatum, lusterless hair, normal echocardiography, midline cleft | macrocephaly, lusterless hair, epilepsy, CHD |
Abbreviations: CHD, congenital heart disease; CT, computed tomography; DD, developmental delay; ERG, electroretinogram; ID, intellectual disability; MTS, molar tooth sign; NSHL, neurosensory hearing loss.