Table 2. Variants identified in genes not specifically associated with the corresponding disease.
| Patient | Gender | Age (yrs) | Test Referred | Gene | Allele1 | Allele2 | Clinical features | Familial study |
|---|---|---|---|---|---|---|---|---|
| Autosomal Recessive | ||||||||
| 1 | M | 10 | RP | BBS10 | c.1677C>A (p.Y559*)[22] | c.9_15delinsGC (p.S3Rfs*91) | Rod and cone dystrophy, horseshoe kidney, ureterocele. | |
| 2 | F | 25 | RP | BBS1 | c.1169T>G(p.M390R)[23] | c.1645G>T(p.E549*)[23] | Retinitis pigmentosa | |
| 3# | M | 17 | RP | BBS1 | c.1169T>G(p.M390R)[23] | c.1169T>G(p.M390R)[23] | Rod and cone dystrophy, (excision of) an extra digit | Both parents are heterozygous for p.M390R |
| 4 | M | 9 | LCA | ALMS1 | c.2816T>A (p.L939*) | c.8776C>T (p.R2926*) | Blindness, hearing loss, severe mental retardation | |
| 5 | F | 8 | LCA | NPHP1 | c.625-2A>G | Whole gene deletion | Infantile nystagmus, poor vision from birth, non-recordable ERG | |
| 6 | M | 45 | RP | DFNB31 | c.409dupG (p. E137Gfs*42) | c.409dupG (p. E137Gfs*42) | Retinitis pigmentosa, hearing loss | Affected sibling is homozygous for p.E137fs |
| Autosomal Dominant | ||||||||
| 7 | F | 33 | RP | GUCA1A | c.341C>T (p.T114I)[24] | Retinal dystrophy | ||
| 8 | M | 1 | FEVR | RIMS1 | c.3399-2delA | Bilateral retinal detachment, cataracts, leukocoria, possible hearing loss, delayed milestones | ||
| X Linked | ||||||||
| 9 | M | 13 | FEVR | RS1 | c.214G>A (p.E72K)[25] | Tractional retinal detachment, vitreous hemorrhage, retinal dragging, peripheral avascular retinas | ||
#: This patient has been previously reported [12].