Table 5.
Genetic data of disease-causing variants in solved families
| Patients | Zygosity | Gene | Variant # 1 | Variant # 2 | |
|---|---|---|---|---|---|
| Usher syndrome | |||||
| Family #2 | 1 | HOM | USH2A |
c10712C > T p.(Thr3571Met) |
c10712C > T p.(Thr3571Met) |
| Family #3 | 1 | HOM | MYO7A |
c5510T > A p(Leu1837His) |
c5510T > A p(Leu1837His) |
| Family #5 | 1 | HOM | USH2A |
c.7932G > A p.(Trp2644*) |
c.7932G > A p.(Trp2644*) |
| Family #6 | 2 | HOM | USH2A | c.(7300 + 1_7301-1)_(9371 + 1_9372-1)del | c.(7300 + 1_7301-1)_(9371 + 1_9372-1)del |
| Family #7 | 1 | HOM | USH1G |
c.183 T > A p.(Cys61*) |
c.183 T > A p.(Cys61*) |
| Family #9 | 1 | HOM | MYO7A |
c.397dup p.(His133Profs*7) |
c.397dup p.(His133Profs*7) |
| Family #12 | 1 | C. HET | USH2A |
c.11232-2A > G p.? |
c.11754G > A p.(Trp3918*) |
| Family #15 | 1 | C. HET | ADGRV1 |
c.6515C > G p.(Ser2172*) |
c.(17,019 + 1_17020-1)_(17,856 + 1_17857-1) dup |
| Family #17 | 1 | C. HET | USH2A |
c.907C > A p.(Arg303Ser) |
c.1879C > T p.(Gln627*) |
| Family #19 | 1 | HOM | MYO7A |
c.6439-1G > A p.? |
c.6439-1G > A p.? |
| Family #20 | 1 | C. HET | USH2A |
c.5278del p. (Asp1760Mefts*10) |
c.11156G > A p.(Arg3719His) |
| Family #21 | 1 | HOM | USH2A | c.(7300 + 1_7301-1)_(9371 + 1_9372-1)del | c.(7300 + 1_7301-1)_(9371 + 1_9372-1)del |
| Family #22 | 2 | HOM | USH2A | c.2809 1G > A | c.2809 1G > A |
| Family #23 | 1 | HOM | MYO7A |
c.5743_574del p.? |
c.5743_574del p.? |
| Family #25 | 1 | C. HET | USH2A |
c.2276G > T p.(Cys759Phe) |
c.9304C > T p.(Gln3102*) |
| Family #27 | 1 | HOM | ARSG |
c.1326del p.(Ser443Alafs*12) |
c.1326del p.(Ser443Alafs*12) |
| Family #28 | 2 | C. HET | MYO7A |
c.1529 T > C p. Ile510Thr |
c.4489G > C p.Gly1497Arg |
| Family #29 | 1 | HOM | USH2A |
c.920_923dup p.(His308Glnfs*16) |
c.920_923dup p.(His308Glnfs*16) |
| Family #31 | 1 | HOM | MYO7A |
c.999 T > G p.Tyr333Term |
c.999 T > G p.Tyr333Term |
| Family #32 | 1 | HOM | ADGRV1 |
c.17668_17669del p.Met5890Valfs*10 |
c.17668_17669del p.Met5890Valfs*10 |
| Family #34 | 2 | HOM | USH2A | c.(7300 + 1_7301-1)_(9371 + 1_9372-1)del | .(7300 + 1_7301-1)_(9371 + 1_9372-1)del |
| Family #36 | 1 | HOM | ADGRV1 |
c.17668_17669del p.(Met5890Valfs*10) |
c.17668_17669del p.(Met5890Valfs*10) |
| Family #38 | 1 | HOM | ADGRV1 |
c.7336del p.(Glu2446Asnfs*21) |
c.7336del p.(Glu2446Asnfs*21) |
| Family #39 | 1 | C. HET | USH2A |
c.907C > A p.Arg303Ser |
c.2209C > T p.Arg737* |
| Family #40 | 1 | HOM | ADGRV1 |
c.17668_17669del p.(Met5890Valfs*10) |
c.17668_17669del p.(Met5890Valfs*10) |
| Family #42 | 1 | C. HET | USH2A |
c.2299delG p.(Glu767Serfs*21) |
c.5329C > T p.(Arg1777Trp) |
| Family #43 | 1 | C. HET | USH2A |
c.920_923dup p.(His308Glnfs*16) |
c.1214del p. (Asn405Ilefs*3) |
| Family #44 | 1 | HOM | USH2A |
c.920_923dup p.(His308Glnfs*16) |
c.920_923dup p.(His308Glnfs*16) |
| Family #46 | 2 | HOM | USH2A |
c.14911C > T p.(Arg4971) |
c.14911C > T p.(Arg4971) |
| Family #48 | 1 | HOM | CDH23 |
c.3579 + 2 T > C p.? |
c.3579 + 2 T > C p.? |
| Family #50 | 1 | HOM | MYO7A |
c.4489G > C p.(Gly1497Arg) |
c.4489G > C p.(Gly1497Arg) |
| Family #51 | 1 | C. HET | CDH23 |
c.6049 + 1G > A c.IVS45 + 1G > A |
c6319C > T p.(Arg2107*) |
| Family #52 | 1 | HOM | ARSG |
c.338G > A p.(Gly113Asp) |
c.338G > A p.(Gly113Asp) |
| Family #53 | 1 | HOM | CDH23 | c.768 + 2 T > A | c.768 + 2 T > A |
| Family #57 | 1 | HOM | MYO7A |
c.3508G > A p.(Glu1170Lys) |
c.3508G > A p.(Glu1170Lys) |
| Family #58 | 1 | HOM | USH2A |
c.920_923dup p. (His308Glnfs*16) |
c.920_923dup p. (His308Glnfs*16) |
| Family #63 | 1 | HOM | USH2A |
c.5278del p.(Asp1760Metfs*10) |
c.5278del p.(Asp1760Metfs*10) |
| Family #65 | 1 | HOM | MYO7A |
c.4489G > C p.(Gly1497Arg) |
c.4489G > C p.(Gly1497Arg) |
| Family #67 | 1 | C. HET | MYO7A |
c.5510 T > A p.(Leu1837His) |
c.6026C > A p.(Ala2009Asp) |
| PHARC | |||||
| Family #10 | 1 | HOM | ABHD12 |
c.1054C > T p.(Arg352*) |
c.1054C > T p.(Arg352*) |
| Family #26 | 2 | HOM | ABHD12 |
c.728G > A p. Trp243* |
c.728G > A p. Trp243* |
| Heimler Syndrome | |||||
| Family #13 | 2 | HOM | PEX1 |
c.2528G > A p.(Gly843Asp) |
c.2528G > A p.(Gly843Asp) |
| Cone-rod dystrophy and hearing loss | |||||
| Family #14 | 1 | HOM | CEP250 |
c.3175_3176del p.(Ser1060Thrfs*15) |
c.3175_3176del p.(Ser1060Thrfs*15) |
| Family #35 | 1 | HOM | CEP250 |
c.4006C > T p.(Arg1336*) |
c.4006C > T p.(Arg1336*) |
| Alport syndrom | |||||
| Family #33 | 1 | HEMI | COL4A5 | c.(609 + 1_610-1)_(998_?)del | N/A |
| Family #49 | 1 | HEMI | COL4A5 |
c.761_762del p. (Glu254Valfs*11) |
N/A |
| Family #71 | 1 | HEMI | COL4A4 |
c.4449_4450dup p.(Met1484Thrfs*69) |
N/A |
| Waardenburg syndrome | |||||
| Family #56 | 1 | HET | MITF |
c.781C > T p.(Gln261*) |
N/A |
| Senior-Loken syndrome | |||||
| Family #68 | 1 | HOM | SDCCAG8 |
c.644G > A p.(Gly215Glu) |
c397G > T p.(Glu133*) |
| Stickler syndrome | |||||
| Family #70 | 1 | HET | COL11A1 |
c.1846G > C p.(Gly616Arg) |
N/A |
C. HET Compound Heterozygous, HOM Homozygous, HEMI Hemizygous, PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome, N/A Not applicable