Table 4.
Summary of Detected Variants of 15 Affected and 7 Unaffected Subjects from 12 Families with GUCY2D-RD
| Family ID | Subject ID | Affected/Unaffected | Exon | Nucleotide and Amino Acid Changes | State |
|---|---|---|---|---|---|
| 1 (MU01) | 1-II:2 (patient 1) | Affected | 2 | c.167_168delTG, p.Val56GlyfsTer262 | Heterozygous |
| 3 | c.738G>C, p.Met246Ile | Heterozygous | |||
| 2 (TMC01) | 2-II:2 (patient 2) | Affected | 2 | c.238_252del, p.Ala80_Leu84del | Compound heterozygous |
| 14 | c.2620G>A, p.Glu874Lys | ||||
| 2-I:1 | Unaffected | 14 | c.2620G>A, p.Glu874Lys | Heterozygous | |
| 2-I:2 | Unaffected | 2 | c.226_240del, p.Ala76_Ala80del | Heterozygous | |
| 3 (NU01) | 3-II:7 (patient 3) | Affected | 12 | c.2281C>T, p.Arg761Trp | Heterozygous |
| 4 (KDU01) | 4-III:1 (patient 4) | Affected | 13 | c.2512C>T, p.Arg838Cys | Heterozygous |
| 4-II:2 (patient 5) | Affected | 13 | c.2512C>T, p.Arg838Cys | Heterozygous | |
| 4-II:1 | Unaffected | 13 | c.2512C>T, p.Arg838Cys | ND | |
| 5 (GU01) | 5-III:5 (patient 6) | Affected | 13 | c.2513G>A, p.Arg838His | Heterozygous |
| 6 (TMC02) | 6-III:1 (patient 7) | Affected | 13 | c.2513G>A, p.Arg838His | Heterozygous |
| 7 (JU01) | 7-II:5 (patient 8) | Affected | 13 | c.2513G>A, p.Arg838His | Heterozygous |
| 7-II:3 (patient 9) | Affected | 13 | c.2513G>A, p.Arg838His | Heterozygous | |
| 7-I:2 (patient 10) | Affected | 13 | c.2513G>A, p.Arg838His | Heterozygous | |
| 8 (JU02) | 8-II:2 (patient 11) | Affected | 13 | c.2513G>A, p.Arg838His | Heterozygous (de novo) |
| 8-I:2 | Unaffected | 13 | c.2513G>A, p.Arg838His | ND | |
| 8-I:1 | Unaffected | 13 | c.2513G>A, p.Arg838His | ND | |
| 9 (KDU02) | 9-III:3 (patient 12) | Affected | 13 | c.2521G>A, p.Glu841Lys | Heterozygous |
| 10 (TMC03) | 10-II:2 (patient 13) | Affected | 14 | c.2704G>T, p.Val902Leu | Heterozygous (de novo) |
| 10-I:2 | Unaffected | 14 | c.2704G>T, p.Val902Leu | ND | |
| 10-I:1 | Unaffected | 14 | c.2704G>T, p.Val902Leu | ND | |
| 11 (NU02) | 11-II:2 (patient 14) | Affected | 14 | c.2747T>C, p.Ile916Thr | Heterozygous |
| 12 (MU02) | 12-II:5 (patient 15) | Affected | 14 | c.2747T>C, p.Ile916Thr | Heterozygous |
GUCY2D transcript ID: NM_000180.3
ND, not detected
Novel variants are shown in italic.
Whole-exome sequencing with targeted analysis for retinal disease-causing genes on RetNET (https://sph.uth.edu/retnet/) was performed in 15 affected and 7 unaffected subjects from 12 families.