Table 3.
The pathogenic RB1 gene mutations detected in patients.
Number of the family | Family ID | Patients number | Family pedigree/degree | Mutations on RB1 gene | ACMG classification status | The types of mutations | dbSNP/ rs codes | Novel mutation status |
---|---|---|---|---|---|---|---|---|
1 | 105 | 650 | Proband | HET, EX:17, c.1567_1568delTT p.(Leu523Lysfs*4) | Pathogenic | Frameshift | - | Novel |
105 | 651a | Mother | HET, EX:17, c.1567_1568delTT p.(Leu523Lysfs*4) | Pathogenic | Frameshift | - | Novel | |
2 | 125 | 850 | Proband | HET, EX:12, c.1150delC p.(Gln384Asnfs*2) | Pathogenic | Frameshift | - | Novel |
125 | 853 | Father | HET, EX:12, c.1150delC p.(Gln384Asnfs*2) | Pathogenic | Frameshift | - | Novel | |
3 | 138 | 980 | Proband | HET, EX:3, c.371_372delTA p.(Ile124Argfs*6) | Pathogenic | Frameshift | - | - |
4 | 147 | 1070 | Proband | HET, EX:18, c.1784delC p.(Pro595Leufs*16) | Pathogenic | Frameshift | - | Novel |
5 | 159 | 1190 | Proband | HET, EX:20, c.2018_2038del p.(His673_Ile680delinsLeu) | Pathogenic | Frameshift | - | Novel |
6 | 178 | 1380 | Proband | HET, EX:15, c.525delA p.(Gln176Asnfs*10) | Pathogenic | Frameshift | Novel | |
7 | 183 | 1550 | Proband | HET, EX:19, c.1939_1940delCT p.(Leu647Phefs*5) | Pathogenic | Frameshift | - | - |
8 | 185 | 1570 | Proband | HET, EX:24, c.2508_2509dupTG p.(Glu837Valfs*13) | Pathogenic | Frameshift | - | Novel |
9 | 220 | 1920 | Proband | HET, EX:2, c.189delA p.(Lys63Asnfs*2) | Pathogenic | Frameshift | - | Novel |
10 | 123 | 830 | Proband | HET, EX:6, c.585G > A p.(Trp195*) | Pathogenic | Nonsense | - | - |
11 | 129 | 890 | Proband | HET, EX:18 c.1735C > T p.(Arg579*) | Pathogenic | Nonsense | rs121913305 | - |
129 | 892b | Father (Healthy) | HET, EX:18 c.1735C > T p.(Arg579*) | Pathogenic | Nonsense | rs121913305 | - | |
129 | 893 | Sibling | HET, EX:18 c.1735C > T p.(Arg579*) | Pathogenic | Nonsense | rs121913305 | - | |
12 | 141 | 1010 | Proband | HET, EX:19, c.1954A > T p.(Lys652*) | Pathogenic | Nonsense | - | - |
141 | 1011 | Mother | HET, EX:19, c.1954A > T p.(Lys652*) | Pathogenic | Nonsense | - | - | |
13 | 148 | 1080 | Proband | HET, EX:2, c.225G > A p.(Trp75*) | Pathogenic | Nonsense | - | - |
14 | 154 | 1140 | Proband | HET, EX:10, c.958C > T p.(Arg320*) | Pathogenic | Nonsense | rs121913300 | - |
154 | 1141a | Mother | HET, EX:10, c.958C > T p.(Arg320*) | Pathogenic | Nonsense | rs121913300 | - | |
154 | 1143a | Maternal-Grandmother | HET, EX:10, c.958C > T p.(Arg320*) | Pathogenic | Nonsense | rs121913300 | - | |
154 | 1145 | Maternal-Uncle | HET, EX:10, c.958C > T p.(Arg320*) | Pathogenic | Nonsense | rs121913300 | - | |
154 | 1147 | Maternal-Cousin (Child of R1145) | HET, EX:10, c.958C > T p.(Arg320*) | Pathogenic | Nonsense | rs121913300 | - | |
154 | 1149 | Maternal-Cousin (Child of R1145) | HET, EX:10, c.958C > T p.(Arg320*) | Pathogenic | Nonsense | rs121913300 | - | |
15 | 160 | 1200 | Proband | HET, EX:18, c.1735C > T p.(Arg579*) | Pathogenic | Nonsense | rs121913305 | - |
16 | 165 | 1250 | Proband | HET, EX:24, c.2513C > A p.(Ser838*) | Pathogenic | Nonsense | rs1131690908 | - |
17 | 177 | 1370 | Proband | HET, EX:14, c.1363C > T p.(Arg455*) | Pathogenic | Nonsense | rs121913302 | - |
18 | 204 | 1760 | Proband | HET, EX:10, c.958C > T p.(Arg320*) | Pathogenic | Nonsense | rs121913300 | - |
19 | 213 | 1850 | Proband | HET, EX:10, c.958C > T p.(Arg320*) | Pathogenic | Nonsense | rs121913300 | - |
20 | 214 | 1860 | Proband | HET, EX:4, c.409G > T p.(Glu137*) | Pathogenic | Nonsense | rs121913296 | - |
21 | 136 | 960 | Proband | HET, EX:12 c.1215 + 1G > A p.? | Pathogenic | Splice error | rs587776783 | - |
22 | 151 | 1110 | Proband | HET, c.265-2A > T p.? | Pathogenic | Splice error | - | - |
151 | 1111 | Sibling | HET, c.265-2A > T p.? | Pathogenic | Splice error | - | - | |
151 | 1112a | Mother | HET, c.265-2A > T p.? | Pathogenic | Splice error | - | - | |
23 | 153 | 1130 | Proband | HET, c.607 + 1G > T p.? | Pathogenic | Splice error | rs587776789 | - |
24 | 195 | 1670 | Proband | HET, c.2520 + 3_2520 + 6delGAGT p.? | Pathogenic | Splice error | rs1131690558 | - |
25 | 206 | 1780 | Proband | HET, c.1960 + 1G > C p.? | Pathogenic | Splice error | - | Novel |
26 | 208 | 1800 | Proband | HET, c.1960 + 1delG p.? | Pathogenic | Splice error | - | - |
27 | 216 | 1880 | Proband | HET, c.1390-14A > G p.? | Pathogenic | Splice error | rs9535023 | - |
28 | 217 | 1890 | Proband | HET, c.1960 + 1G > A p.? | Pathogenic | Splice error | - | - |
29 | 221 | 1930 | Proband | HET, c.607 + 1G > T p.? | Pathogenic | Splice error | rs587776789 | - |
221 | 1931b | Father (Healthy) | HET, c.607 + 1G > T p.? | Pathogenic | Splice error | rs587776789 | - | |
221 | 1933b | Sibling (Healthy) | HET, c.607 + 1G > T p.? | Pathogenic | Splice error | rs587776789 | - | |
30 | 181 | 1500 | Proband | HET, EX:19, c.1960G > C p.(Val654Leu) (Last base of Exon 19) | Pathogenic | Missense | rs483352690 | - |
31 | 104 | 640 | Proband | HET, EX:13, c.1332 G > A p.(Gln444=), Last base of Exon 13) | Pathogenic | Synonymous substitution | - | - |
104 | 643 | Sibling | HET, EX:13, c.1332 G > A p.(Gln444=), Last base of Exon 13) | Pathogenic | Synonymous substitution | - | - | |
32 | 187 | 1590 | Proband | Upstream, HET, c.-198G > A p.? | Pathogenic | Upstream substitution | rs387906521 | - |
187 | 1591 | Sibling | Upstream, HET, c.-198G > A p.? | Pathogenic | Upstream substitution | rs387906521 | - | |
33 | 109 | 690 | Proband | HET, EX:1-27 DELETION | Pathogenic | Large deletion or duplication | - | - |
109 | 693 | Sibling | HET, EX:1-27 DELETION | Pathogenic | Large deletion or duplication | - | - | |
34 | 119 | 790 | Proband | HET, EX:21-23 DELETION | Pathogenic | Large deletion or duplication | - | - |
35 | 128 | 880 | Proband | HET, EX:7-11 DELETION | Pathogenic | Large deletion or duplication | - | - |
36 | 134 | 940 | Proband | HET, EX:1-27 DELETION | Pathogenic | Large deletion or duplication | - | - |
134 | 942b | Father (Healthy) | HET, EX:18-27 DELETION | Pathogenic | Large deletion or duplication | - | - | |
134 | 943 | Sibling | HET, EX:18-27 DELETION | Pathogenic | Large deletion or duplication | - | - | |
37 | 140 | 1000 | Proband | HET, EX:1-17 DELETION | Pathogenic | Large deletion or duplication | - | - |
38 | 172 | 1320 | Proband | HET, EX:13 DELETION | Pathogenic | Large deletion or duplication | - | - |
39 | 173 | 1330 | Proband | HET, EX:1-27 DELETION + Partial deletion of DLEU1 and PCHD8 gene | Pathogenic | Large deletion or duplication | - | - |
40 | 193 | 1650 | Proband | HET, EX:3-27 DELETION | Pathogenic | Large deletion or duplication | - | - |
41 | 200 | 1720 | Proband | HET, EX:4-17 DUPLICATION | Pathogenic | Large deletion or duplication | - | - |
42 | 201 | 1730 | Proband | HET, EX:1-27 DELETION | Pathogenic | Large deletion or duplication | - | - |
ACMG = American College of Medical Genetics and Genomics, HET = heterozygous, RB1 = retinoblastoma gene.
Retinoma.
Healthy/unaffected.