Table 1.
Overview of the cohort.
| No. | Family ID Index Subject | Origin | First (clinical) diagnosis | Molecular diagnostics procedure | Disease causing variant (reference) | Zygosity | Genetic diagnosis |
|---|---|---|---|---|---|---|---|
| 1 | TR21 MGL#25712 | Israeli Arab | Stargardt disease | Homozygosity Mapping; Clinical exome | ABCA4 c.[5512C > G; c.5882G > A]; p.[(His1838Asp; p.Gly1961Glu)], (complex allele; [20]) | Homozygous | Stargardt disease, autosomal recessive |
| 2 | AQ33a MGL#25802 | Palestinian Arab | Night blindness followed by gradual/total vision loss | Whole exome sequencing | CRB1 c.2230C > T; p.(Arg744Ter) [14] | Homozygous | Leber congenital amaurosis, retinitis pigmentosa, or other early-onset retinal dystrophy, autosomal recessive |
| AQ34a MGL#25806 | Palestinian Arab | Total vision loss | Whole exome sequencing | CRB1 c.2230C > T; p.(Arg744Ter) [14] | Homozygous | Leber congenital amaurosis, retinitis pigmentosa, or other early-onset retinal dystrophy, autosomal recessive | |
| 3 | AQ24 MGL#24607 | Palestinian Arab | Vision loss | Whole exome sequencing | CRB1 c.2673C > A; p.(Cys891Ter) (this study) | Homozygous | Leber congenital amaurosis, retinitis pigmentosa, or other early-onset retinal dystrophy, autosomal recessive |
| 4 | AQ10 MGL#23594 | Palestinian Arab | Decreased vision since birth and color blindness | Homozygosity Mapping; Whole exome sequencing | CRB1 c.3307G > A; p.(Gly1103Arg) [56] | Homozygous | Leber congenital amaurosis, retinitis pigmentosa, or other early-onset retinal dystrophy, autosomal recessive |
| 5 | AQ55 MGL#28355 | Palestinian Arab | Night blindness and gradual vision loss | Whole exome sequencing | CRB1 c.3307G > A; p.(Gly1103Arg) [56] | Homozygous | Leber congenital amaurosis, retinitis pigmentosa, or other early-onset retinal dystrophy, autosomal recessive |
| 6 | AQ11/12 MGL#23601 | Palestinian Arab | Decreased vision and sensitivity to light | Homozygosity Mapping; Candidate gene screening | CNGA3 c.985G > T; p.(Gly329Cys) [57] | Homozygous | Achromatopsia, autosomal recessive |
| 7 | AQ23 MGL#27112 | Palestinian Arab | Retinal dystrophy | Whole exome sequencing | CNGA3 c.940_942delATC; p.(Ile314del) [24] | Homozygous | Achromatopsia, or achromatopsia-like disorder, autosomal recessive |
| 8 | AQ08 MGL#20056 | Palestinian Arab | Retinitis pigmentosa | Homozygosity Mapping; Candidate gene screening | FAM161A c.1003C > T; p.(Arg335Ter) (this study, published elsewhere [18]) | Homozygous | Retinitis pigmentosa, autosomal recessive |
| 9 | AQ09 MGL#20665 | Palestinian Arab | Usher syndrome | Homozygosity Mapping; Clinical exome | GPR98 c.14315C > G; p.(Ser4772Ter) (this study) | Homozygous | Usher syndrome, autosomal recessive |
| 10 | AQ20 MGL#24588 | Palestinian Arab | Visual problems including night blindness | Whole exome sequencing | RLBP1 c.79delA; p.(Thr27Profs*26) (this study) | Homozygous | Retinitis pigmentosa, or retinitis punctata albescens, autosomal recessive |
| 11 | AQ53 MGL#28742 | Palestinian Arab | Vision reduction since birth | Whole exome sequencing | RPGRIP1 c.1107delA; p.(Glu370Asnfs*5) [34] | Homozygous | Leber congenital amaurosis, autosomal recessive |
| 12 | AQ06 MGL#20037 | Palestinian Arab | Ophthalmic disorder | Homozygosity Mapping; Candidate gene screening | RDH5 c.382G > A; p.(Asp128Asn) [29] | Homozygous | Fundus albipunctatus, autosomal recessive |
| 13 | TR11 MGL#23881 | Israeli Arab | Leber congenital amaurosis | Homozygosity Mapping; Candidate gene screening | SPATA7 c.1–23706_373–709delinsTGG (this study, published elsewhere [19]) | Homozygous | Leber congenital amaurosis, or juvenile retinitis pigmentosa, autosomal recessive |
| 14 | AQ46 MGL#27119 | Palestinian Arab | Osteopetrosis with complete vision loss | Whole exome sequencing | SNX10 c.284G > A; p.(Arg95His) [38] | Homozygous | Infantile osteopetrosis, autosomal recessive |
| 15 | AQ52 MGL#28341 | Palestinian Arab | Atrophic eye balls, complete vision loss since birth | Whole exome sequencing | VSX2 c.679C > T; p.(Arg227Trp) [39] | Homozygous | VSX2-based anophthalmia/ microphthalmia, autosomal recessive |
| 16 | MA08 MGL#26431 | Palestinian Arab | Congenital nanophthalmos, microsclerocornea | Whole exome sequencing | PXDN c.2459A > G; p.(Gln820Arg) [this study] | Homozygous | PXDN-based anterior segment dysgenesis, autosomal recessive |
| 17 | AQ48 MGL#27830 | Palestinian Arab | Vision loss and hearing problems of various degrees | Whole exome sequencing | COL9A2 c.1774G > A; p.(Gly592Ser) [this study] COL18A1 c.3514_3515delCT; p.(Leu1172Valfs*72) [45] | Homozygous, triallelic | Stickler syndrome and Knobloch syndrome, autosomal recessive |
| 18 | AQ21 MGL#24553 | Palestinian Arab | Congenital cataract | Whole exome sequencing | GALK1 c.678delT; p.(Asn226Lysfs*38) [this study] | Homozygous | Early cataract formation due to galactokinase deficiency, autosomal recessive |
| 19 | TR16 MGL#26902 | Israeli Arab | (Idiopathic) infantile nystagmus | Whole exome sequencing | AHR c.1861C > T; p.(Gln621Ter) (this study, published elsewhere [13]) | Homozygous | New disease entity, autosomal recessive |
| 20 | AQ13b MGL#23586 | Palestinian Arab | Cerebellar atrophy with hearing loss and decreased vision | Homozygosity Mapping | Unsolved | None |
aThe families AQ33 and AQ34 were found to be distantly related and therefore considered as a single family (No. 2) in this study
bFamily AQ13 (No. 20) was related to AQ11/12, but showed a distinct phenotype