Table 1 Clinical features of JBTS and BBS patients with biallelic IFT74 variants.
From: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome
Patient ID | 78C1 (Family 1_II:1) | 78C2 (Family 1_II:2) | 103C (Family 2_II:1) | 117C (Family 3_II:1) | IFT74-BBS case 1 (Lindstrand) | IFT74-BBS case 2 (Kleinendorst) |
|---|---|---|---|---|---|---|
Age | 13 years 5 months | 1 year 11 months | 4 years 6 months | 7 years 2 months | 36 years | 11 years |
Gender | Female | Female | Male | Male | Male | Female |
Ethnicity | Chinese | Chinese | Chinese | Chinese | NA | Dutch |
Variant 1 | c.92delT (p.L31Hfs*25) | c.92delT (p.L31Hfs*25) | c.306-24A>G (p.103_135del) | c.85C>T (p.R29*) | Deletion of exon 14–19 | c.371_372del (p.Q124Rfs*9) |
Variant 2 | c.535C>G (p.Q179E) | c.535C>G (p.Q179E) | c.535C>G (p.Q179E) | c.535C>G (p.Q179E) | c.1685-1G>T | c.1685-1G>T |
Height (cm) | 148.5 | 78 | 104 | 116 | NA | 162.7 |
Weight (kg) | 40 | 8.9 | 14 | 17.8 | NA | 70.94 |
BMI (kg/m2) | 18.14 | 14.63 | 12.94 | 13.23 | NA | 26.80 |
Molar tooth sign | + | + | + | + | − | − |
Oculomotor apraxia | − | + | + | + | NA | − |
Respiratory abnormality | − | + | + | − | NA | − |
Hypotonia | + | + | + | + | NA | − |
Retinal involvement | − | − | − | − | Retinitis pigmentosa | Rod–cone dystrophy |
Optic nerve hypoplasia/RNFL defect | +/+ | +/+ | −/− | −/+ | NA/NA | −/− |
Renal involvement | − | − | − | − | − | − |
Liver involvement | − | − | − | − | NA | − |
Postaxial polydactyly | + | + | + | + | + | + |
Developmental delay | + | + | + | + | − | −a |
Intellectual disability | − | Moderate | Mild | Mild | + | − |
Hypogonadism (in males) or | ||||||
genital abnormalities (in females) | − | − | − | − | Hypogonadism | − |
Craniofacial dysmorphisms | Midline cleft lip | Midline notch in the upper lip | Midline cleft lip | Midline notch in the upper lip | Microcephaly | Macrocephalyb |
Truncal obesity | − | − | − | − | + | + |
Diabetes mellitus | − | − | − | − | − | − |
Behavioral problem | − | Self-mutilation | − | − | − | − |
