Table 1.
Clinical features of individuals with bi-allelic TTC5 variants
| Family | RDHM-05 | CW07 | 5543 | 5377 | Summary of features | ||
|---|---|---|---|---|---|---|---|
| Subject | A | B | A | B | A | A | |
| TTC5 Variant | c.629A>G p.Tyr210Cys |
c.629A>G p.Tyr210Cys |
c.1183 C>T p.Arg395Ter |
c.1183 C>T p.Arg395Ter |
c.787C>T p.Arg263Ter |
c.787C>T p.Arg263Ter |
|
| Sex | Male | Female | Male | Male | Male | Female | 2f / 4m |
| Gestational age at delivery (weeks) | 37 | 34 | 35 | 34 | 39 | 40 | 34–40 weeks |
| Head Size (cm) | BPD: 8.8 | BPD: 8.5 | BPD: 8.7 | NA | HC: 32 | HC: 31 | 0.1–50.8 percentile |
| Onset of disorder | At birth | At birth | At birth | At birth | At birth | At birth | At birth |
| Birth weight (kg) | 2.5 | 1.8 | 2.0 | 2.4 | 2.75 | 3 | 3.2–56.9 percentile |
| Present weight (kg) | 21 | 10 | 18.5 | 16.1 | 6.8 | 10 | 0.1–12.71 percentile |
| Current age (years) | 8 | 3 | 7 | 5 | 5 | 6 | 3–8 years |
| Present height (cm.) | 106.68 | 86.36 | 115 | 110 | 92 | 82 | 0.1–57.1 percentile |
| Age at unassisted sitting (months) | 12 | NA | After 1 year | After 1 year | Not Yet | Not Yet | 3/6 1–6+ years |
| Age at unassisted standing (months) | 36 | 12 | After 3 years | After 2 years | Not Yet | Not Yet | 4/6 1–3+ years |
| Age at first word (months) | 24 | None | None | None | None | None | 6/6 24+ months |
| Present speech ability | Equals 2 years and 3 months | No speech | No speech | No speech | No speech | No speech | 5/6 no speech |
| Intellectual disability | Moderate | Mild | Severe | Moderate | Severe | Severe | 6/6 |
| Abnormal brain MRI | + | NA | + | + | + | + | 5/5 |
| Cerebral atrophy | + | NA | + | + | + | + | 5/5 |
| Enlarged lateral ventricles | − | NA | + | + | + | + | 4/5 |
| Corpus callosum atrophy | − | NA | + | + | + | + | 4/5 |
| Simplified gyral pattern | − | NA | + | + | + | + | 4/5 |
| Other brain abnormality | − | NA | + distended straight sinus, gliosis |
+ distended straight sinus, enlarged third ventricle, bilateral silvian fissures observed |
+ | + central atrophy |
4/5 |
| Hypotonia | − | − | + | + | + | + | 4/6 |
| Facial Dysmorphism | − | − | + abnormal outer ear, wide forehead, flared eyebrows and thin upper lip (v-shaped) |
+ abnormal outer ear, wide forehead, flared eyebrows, v-shaped upper lip |
+ V-shaped upper lip, high arched palate, long philtrum, prominent eyes |
+ Thin upper lip, high arched palate |
4/6 Thin v-shaped upper lip |
| Microcephaly | − | − | − | − | − | + | 1/6 |
| Skin Anomaly | − | + Hirsutism |
+ Acneiform lesions, dry skin |
+ Acneiform lesions, dry skin |
− | − | 3/6 |
| Paranasal sinus volume increased | − | NA | + | + | − | − | 2/5 |
| Autistic behavior | − | − | + | + | − | − | 2/6 |
| Aggression | + | − | − | + | − | − | 2/6 |
| Genitourinary Abnormalities | + Undescended testes |
− | − | − | + Bilateral undescended testes |
− | 2/6 |
| Sleep Disturbance | − | − | − | − | + | + | 2/6 |
| Scoliosis or kyphosis | − | − | − | − | − | + Mild kyphosis |
1/6 |
| Seizures | − | − | − | − | − | + Left centro- parieto- temporal epileptogenic discharge |
1/6 |
| Internipple distance | NA | NA | − | + wide |
− | − | 1/6 |
NA, not available; HC, head circumference; BPD, biparietal diameter; +, present; −, absent.