Clinical, neuroimaging and genetic features of children with JS having CEP120 mutations
| Family | COR391 | MTI-143 | MTI-991 | MTI-1516 |
|---|---|---|---|---|
| Affected individuals (sex) | 1 (F) | 1 (M) | 1 (M) | 1 (F) |
| Age at last examination | 4 years+7 months | 11 years | 2 years+1 month | 2 years |
| Consanguinity | Yes | No | Yes | No |
| Country of origin | Italy | USA | Palestine | India |
| Nucleotide change | c.581T>C hom | c.2177T>C/c.2134C>T | c.(49+5_49+10del; 49+5_49+ 10delins477) hom | c.1138_1139insA/c.1646C>T |
| Protein change | p.Val194Ala hom | p. Leu726Pro/p.Leu712Phe | p.(Gly+1Aspfs*14;?) | p.Ser380Thrfs*19/p.Ala549Val |
| LOVD screening ID | 00058830 | 00058831 | 00058832 | 00058833 |
| LOVD individual ID | 0000058794 | 0000058793 | 0000058796 | 0000058797 |
| Neurological signs | ||||
| Hypotonia | Yes | Yes | Yes | Yes |
| Developmental delay/cognitive impairment | Yes | Yes | Yes | Yes |
| Abnormal breathing | No | Yes | No | Yes |
| Abnormal ocular movements | No | OMA, nystagmus, Duane syndrome | No | Strabismus |
| Truncal ataxia | Yes | No | Yes | No |
| Other organ involvement | ||||
| Retinal | No | No | No | No |
| Renal | No | No* | No | No |
| Hepatic | No | No | No | No |
| Oral-facial | No | No | No | No |
| Skeletal | No | No | No | No |
| Neuroimaging | ||||
| Molar tooth sign | Yes | Yes | Yes | Yes |
| Other | Mild ventriculomegaly | CC hypoplasia | No | No |
*Grade II-III hydronephrosis was detected at birth but it spontaneously resolved after few months. No renal problems have been reported since then.
CC, corpus callosum; F, female; JS, Joubert syndrome; LOVD, Leiden Open (source) Variation Database; M, male; OMA, ocular motor apraxia.