Table 1 Summary of clinical characteristics and PIBFI variants observed in Joubert syndrome patients
current study | Wheway et al.1 | Wheway et al.1 | Hebbar M. et al.2 | Ott T. et al.3 | ||
|---|---|---|---|---|---|---|
number of patients | 1 | 1 | 6 | 1 | 1 | |
gender | male | female | three female, three male | female | female | |
Origin | Chinese | NA | Canada Hutterite | Indian | German | |
clinical features | Developmental delay | + | + | all were + | + | + |
Hypotonia | + | + | all were + | + | + | |
ocular movement abnormality | + | NA | all were NA | NA | + | |
Ataxia | NA | + | all were + | NA | NA | |
Cystic kidney disease | – | NA | all were NA | + | – | |
Retinal degeneration | – | NA | all were NA | – | – | |
Molar tooth sign | + | + | two patients was -, one was NA, and three was + | + | + | |
Perisylvian polymicrogyria | – | – | all were - | + | + | |
Hypoplasia of corpus callosum | – | – | all were - | + | – | |
Cerebellar vermis hypoplasia | + | + | five patients were +, and one was NA | + | + | |
Foramen magnum cephalocele | + | NA | four patients were -, one was NA, and one was + | – | – | |
variant details | mutation1 | c.1147delC, p.Gln383LysfsTer4 | c.1214G > A, p.Arg405Gln | c.1910A > C, p.Asp637Ala | c.1181_1182ins36, p.(Gln394_Leu395ins12) | c.1453C > T, p.Gln485∗ |
mutation2 | c.1054A > G, p.Lys352Glu | c.1669delC, p.Leu557Phefs*18 | c.1910A > C, p.Asp637Ala | c.1181_1182ins36, p.(Gln394_Leu395ins12) | c.1508A > G, p.Tyr503Cys |