Table 1 Seventeen variants found in fourteen patients with unknown clinical diagnosis.
From: Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
Variant | Type of variant | Patient phenotype | Publications if published |
|---|---|---|---|
MVK NM_000431.2:c.380C>T p.(Pro127Leu) hom | Missense | HP:0001263 global developmental delay; HP:0000365 hearing impairment/loss; HP:0000821 hypothyroidism; HP:0001508 failure to thrive; HP:0001410 decreased liver function; HP:0000548 cone/cone-rod dystrophy | Published by our group (same patient): [16] |
MVK NM_000431.2:c.630G>A p.(Trp210Ter) het, | Nonsense | HP:0010978 abnormality of immune system physiology; HP:0000510 retinitis pigmentosa; | Novel |
MVK c.1129G>A p.(Val377Ile) het | Missense | ||
KIF11 NM_004523.3:c.478_479delCT p.(Leu160ValfsTer5) het | Frameshift deletion | HP:0000252 microcephaly; HP:0011968 feeding difficulties; HP:0001263 global developmental delay; HP:0007973 retinal dysplasia; HP:0007773 vitreoretinopathy | Published by our group (same patient): [16] |
BBS1 NM_024649.4:c.1110G>A p.(Pro370Pro) Hom. | Synonymous | HP:0000662 nyctalopia; HP:0000510: rod-cone dystrophy; HP:0001249 intellectual disability | [40] |
BBS1 NM_024649.4:c.1169T>G p.(Met390Arg) Hom | Missense | HP:0000510 rod-cone dystrophy; HP:0010442 polydactyly; HP:0002099 asthma; HP:0100502 Vitamin B12 deficiency | |
OTX2 NM_021728.2:c.811delA p.(Thr271LeufsTer31) het | Frameshift deletion | HP:0001250 seizures; HP:0000545 myopia; HP:0000510 retinitis pigmentosa; HP:0000662 nyctalopia; HP:0007663 reduced visual acuity; HP:0000518 cataract; HP:0000639 nystagmus | Novel |
IFT140 NM_014714.3:c.998G>A p.(Cys333Tyr) homozygous | Missense | HP:0001251 cerebellar ataxia;HP:0000510 retinitis pigmentosa | |
Genes associated with isolated retinal dystrophy | |||
GNAT2 NM_005272.3:c.605G>A p.(Gly202Glu) hom | Missense | HP:0000750 delayed speech and language development; HP:0000548 cone/cone-rod dystrophy | Published by our group (same patient): [16] |
CNGA3 NM_001298.2:c.560T>C p.(Ile187Thr) hom. | Missense | HP:0001249 intellectual disability; HP:0000548 cone/cone-rod dystrophy | Published by our group (same patient): [16] |
TRPM1 NM_002420.5:c.2951G>A p.(Arg984His) Het; | Missense | HP:0001249 intellectual disability;HP:0000708 behavioural abnormality;HP:0007642 congenital stationary night blindness | [45] |
microarray identified a 15q13.3 microdeletion reported in the loss of the TRPM1 gene: NM_002420.5:c.(?_−1)_(*1_?)del | Microdeletion | [19] | |
PROM1 NM_006017.2:c.1354dupT p.(Tyr452Leufs*13) hom | Frameshift duplication | HP:0001251 ataxia;HP:0000556 retinal dystrophy | |
PRPF3 NM_004698.2:c.1285G>T p.(Asp429Tyr) het | Missense | HP:0002652 skeletal dysplasia;HP:0000510 retinitis pigmentosa | Novel |
EYS NM_001142800.1:c.8133_8137del p.(Phe2712CysfsTer33) het | Frameshift deletion | HP:0001513 obesity;HP:0000510 retinitis pigmentosa; | [48] |
EYS NM_001142800.1:c.8816G>C p.(Cys2939Ser) het | Missense | Novel | |
USH2A c.6670G>T p.(Gly2224Cys) het | Missense | HP:0001249 intellectual disability; HP:0000510 retinitis pigmentosa | [49] |
USH2A NM_206933.2:c.10342G>A p.(Glu3448Lys) het | Missense | [50] | |
