Table 1 Comparison of the known phenotypes associated with ARL3 and CEP120 mutations
From: Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
| Â | Patients with ARL3 related ciliopathy | Patients with CEP120 related ciliopathy |
|---|---|---|
Number of affected patients reported and presenting phenotypes | 4 patients reported with JSRD secondary to biallelic changes [15] 4 patients with retinitis pigmentosa secondary to monoallelic changes [35, 36] | 4 patients with JSRD 4 patients with JATD 1 foetus with MKS 1 foetus with TCDOE |
Brain imaging findings | Molar tooth sign | Molar tooth sign |
Intellect | Developmental delay Psychomotor delay | Developmental delay Cognitive impairment |
Skeletal | No known associated phenotypes | Severely narrow chest Skeletal dysplasia Small and horizontal ribs Short limbs Polydactyly Synpolydactyly |
Mobility | Ataxic gait Hypotonia | Truncal ataxia Hypotonia |
Eye | Night blindness Bilateral vision loss Retinal dystrophy Ocular motor apraxia | Microphthalmia Duane syndrome Strabismus |
Kidney | Cystic dysplastic kidney Bilateral renal scarring Recurrent urinary tract infections | Cystic dysplastic kidney |