Table 1.
Complex phenotypes associated with PNPLA6 mutations.
| Patient MOGL study |
5,267 | 5,273 | 166 | 167 | 169 | 3,649 | 5,477 | 5,440 | 5,748 |
| Gender | F | M | F | F | M | M | F | F | M |
| Age at first exam (years) |
9 | 29 | 3 | 3 | 16 | 0 | 2 | 2 | 0 |
| Birth weight (kg) |
2 kg | NA | 3 kg | 3.3 kg | 1.9 kg | NA | 2.5 kg | 2.5 kg | 2.4 kg |
| Height | Short | Short | Short | Short | Short | Normal | Short/ Dwarfism |
Short | Short |
| Bone age | Delayed | NA | NA | NA | Normal | None | Delayed | Delayed | Delayed |
| Trichomegaly | Yes | Yes | Yes | Yes | Yes | No | NA | Normal | NA |
| Hair | Normal | Sparse | Alopecia | Normal | Alopecia | Normal | Alopecia | Alopecia | NA |
| Retinal degeneration |
Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| GH deficiency | Yes | Yes | Yes | Yes | Yes | None | Yes | Yes | Yes |
| Hypothyroidism | Yes | Yes | None | None | None | None | Yes | Yes | Yes |
| Hypogonadism | None | None | Yes | Yes | Yes | None | Yes | Yes | Yes |
| Mental retardation |
None | None | None | None | None | Autism | Mild | None | Yes |
| Peripheral neuropathy and/or ataxia |
None | Yes | Yes | Yes | Yes | None | Yes | Motor neuropathy |
Yes |
| Inheritance | Sporadic | Sporadic | AR | AR | AR | Sporadic | NA | Sporadic | Sporadic |
| Chromosome | NA | 46 XY | 46 XX | 46 XX | 46 XY | NA | NA | 46 XY | NA |
| Age when last seen (years) |
9 | 30 | 22 | 22 | 31 | 20 | 23 | 54 | 20 |
| VA | 20/400 OD 20/400 OS |
Light perception with projection in both eyes |
NA | NA | NA | Counting fingers |
Lower than 20/400 |
Light perception only |
20/200 OD 20/80 OS |
| GVF | No measurable field |
No measurable visual field |
NA | NA | NA | No measurable field |
No measurable field |
No measurable field |
Peripheral constriction |
| ERG | No recordable responses |
No recordable responses |
NA | NA | NA | NA | NA | No recordable responses |
NA |
| Retinal appearance |
Severe degeneration |
Severe degeneration |
Severe degeneration |
Severe degeneration |
Severe degeneration |
Severe degeneration |
Severe degeneration |
Severe degeneration |
Severe degeneration |
| Cancer | None | None | None | None | None | None | None | None | None |
| Dental history | None | Chalky white teeth, numerous cavities |
tooth development abnormalities |
tooth development abnormalities |
tooth development abnormalities |
None | None | Delay in dentition |
None |
| Comments | None | None | Severe neonatal hyperbilirubinemia |
Severe neonatal hyperbilirubinemia |
Severe neonatal hyperbilirubinemia |
Nystagmus | Retinal sparing around the optic disc. Optic disc normal appearance |
Mild elevation of LFTs |
Thoracic lumbar scoliosis |
ERG, electroretinograms; F, female; GH, growth hormone; GVF, Goldmann visual field; LFT, liver function tests; M, male; NA, not available; OD, oculus dexter; OS, oculus sinister; VA, Snellen visual acuity.