Table 1.
Comprehensive description of clinical findings of patients with TRAPPC6B mutations
| 341-3-4 | 341-3-5 | 350-3-5 | 350-3-6 | 1712-3-1 | 1712-3-3 | |
|---|---|---|---|---|---|---|
| Mutation (genomic DNA) | hg19:14:g.39628756T> C:TRAPPC6B:NM_177452 |
hg19:14:g.39628756T> C:TRAPPC6B:NM_177452 |
hg19:14:g.39628756T> C:TRAPPC6B:NM 177452 |
hg19:14:g.39628756T> C:TRAPPC6B:NM_177452 |
hg19:14:g.39628756T> C:TRAPPC6B:NMJ 77452 |
hg19:14:g.39628756T> C:TRAPPC6B:NM_177452 |
| Mutation (cDNA) | c.82-2A>G | c.82-2A>G | c.82-2A>G | c.82-2A>G | c.82-2A>G | c.82-2A>G |
| Mutation (protein) | p.E28Vfs*11 | p.E28Vfs*11 | p.E28Vfs*11 | p.E28Vfs*11 | p.E28Vfs*11 | p.E28Vfs*11 |
| Origin | Beni Suef (Upper Egypt) |
Beni Suef (Upper Egypt) |
Qalyubia (Lower Egypt) |
Qalyubia (Lower Egypt) |
Sharqia (Lower Egypt) |
Sharqia (Lower Egypt) |
| Gestational age | Full term | Full term | Full term | Full term | Full term | Full term |
| Weight at birth (kg) | 3 | 2.5 | 3 | 3.2 | 3.5 | 3.4 |
| Length at birth (cm) | 49 | 48 | N/A | N/A | 50 | 49 |
| HC at birth (cm, SD) | 32 (−1.9) | 32 (−1.9) | 32 (−1.4) | 32.5 (−1.7) | 32.4 (−1.7) | 33 (−1.5) |
| Postnatal growth | ||||||
| Age at examination (years) | 8 | 3 | 12/23 | 10/21 | 10 | 2 |
| HC (cm, SD) | 47 (−4) | 12.6 (−4) | 46 (−4.5)/46 (−7) | 46 (−4)/48 (−5) | 46 (−4) | 43.2 (−3.9) |
| Height (cm, SD) | 109 (−3) | 84 (−2.5) | 138 (−2)/147 (−2.6) | 122 (−2.2)/156 (−2.5) | 118 (−3) | 80 (−2) |
| Weight (kg, SD) | 20 (−1.6) | 12.6 (−1.5) | 48 (+1)/55 (0) | 36 (+0.7)/50 (−1.5) | 23 (−1) | 14 (+1) |
| Psychomotor development | ||||||
| Gross motor | Delayed, walked at 5 years | Delayed, walks supported | Delayed, walked at 4 years | Delayed, walked at 3 years | Delayed walked at 5 years | Unable to walk, able to sit |
| Fine motor | Severely delayed | Delayed | Severely delayed | Severely delayed | Severely delayed | Delayed |
| Language | No language | No language | Few double syllable words | Few double syllable words | Few single syllable words | No language |
| Social | Poor social interaction, hyperactive | Poor social interaction, hyperactive | Poor social interaction, hyperactive | Poor social interaction, hyperactive | Poor social interaction, hyperactive | Poor social interaction |
| Motor stereotypies | Hand flapping | Hand flapping | Hand flapping, clapping, head nodding versus negative myoclonus | Hand flapping, clapping, head nodding | Hand flapping | Hand flapping |
| Regression of acquired milestones | − | − | Worsening gait ataxia and neurocognitive abilities | Worsening gait ataxia and neurocognitive abilities | − | |
| Neurological findings | ||||||
| Extrapyramidal symptoms | Hand tremors | − | Hand tremors | Hand tremors | Hand tremors | − |
| Brainstem findings | − | − | Dysphagia | − | − | − |
| Nystagmus | + (horizontal) | − | − | − | + (horizontal) | + (horizontal) |
| Motor weakness (upper and/or lower extremities) | + | + | + | + | + | + |
| Muscle tone, bulk | Hypotonia, normal bulk | Hypotonia, normal bulk | Hypotonia, normal bulk | Hypotonia, normal bulk | Hypotonia, normal bulk | Hypotonia, normal bulk |
| Deep tendon reflexes | Brisk in all extremities | Brisk in all extremities | Brisk in all extremities | Brisk in all extremities | Brisk in all extremities | Brisk in all extremities |
| Gait | Wide based, unsteady | Unsteady supported | Wide based, progressive worsening of unsteady gait | Wide based, progressive worsening of unsteady gait | Wide based, unsteady | Cannot walk |
| Seizures | ||||||
| Onset | 3 years | 2 years | 2 years | 2 years | 11 months | − |
| Type | GTC | GTC | GTC | GTC | GTC | GTC |
| Electroencephalogram | Multifocal | N/A | Multifocal | Multifocal | Multifocal | N/A |
| Other systemic findings | Strabismus | − | − | Strabismus | Strabismus, recurrent bone fractures | Strabismus |
(+) present, (−) absent. HC, head circumference; GTC, generalised tonic-clonic seizure; SD, standard deviation; N/A, not available.