Table 1. Six homozygous variants in the homozygous regions over 1 Mb.
| Gene symbol | Mutation | Chr | Segregation |
Expression pattern |
Related disease | |
|---|---|---|---|---|---|---|
| Retina | Other tissues | |||||
| UBQLNL | c.80C>G (p.S27C) | 11 | Excluded | No | Unknown | Unknown |
| SLC25A43 | c.722G>A (p.G241E) | X | Excluded | No | Unknown | Paget’s disease of bone |
| APOB | c.875C>G (p.P292R) | 2 | Yes | No | Gut, liver | Hypercholesterolaemia |
| PHF3 | c.5500C>T (p.H1834Y) | 6 | Yes | No | Blood, kidney, etc | Anaplastic astrocytoma and astrocytoma |
| PTK2B | c.1520A>G (p.Y507C) | 8 | Yes | No | Blood, cerebellum, etc | Neutrophil degranulation |
| SLC7A14 | c.988G>A (p.G330R) | 3 | Yes | Yes | Brain, spinal cord | None |
Chr, chromosome.