Table 1 of
Verma, Mol Vis 2025; 31:55-67. Table 1 of
Verma, Mol Vis 2025; 31:55-67.
Table 1. List of LTBP2 variations identified in this study.
| Family No. | Patient ID | Age | Sex | Consanguinity | LTBP2 nucleotide change | LTBP2 AA change | Variation type | Exon | Zygosity | ACMG | Variation status | Testing method | NGS coverage | Sanger validation | Other gene variation detected | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F1 | P1 | 0.4 | M | Y | c.3499C>T | p.Gln1167Ter | stop gain | 23 | Homo | LP | Novel | WES | 53X | No | ||
| F1 | P2 | 2 | F | Y | c.3499C>T | p.Gln1167Ter | stop gain | 23 | Homo | LP | Novel | Sanger | Y | |||
| F2 | P3 | 5 | F | Y | c.3183C>A | p.Cys1061Ter | stop gain | 21 | Com Het | LP | Rare rs2087047140 | WES | 85X | No | ||
| Y | c.328 C>T | p.Gln110Ter | stop gain | 1 | Com Het | LP | Rare rs1263916438 | WES | 135X | |||||||
| F2 | P4 | 1 | F | Y | c.3183C>A | p.Cys1061Ter | stop gain | 21 | Com Het | LP | Rare rs2087047140 | Sanger | Y | No | ||
| Y | c.328C>T | p.Gln110Ter | stop gain | 1 | Com Het | LP | Rare rs1263916438 | Sanger | Y | |||||||
| F3 | P5 | 7 | F | Y | c.1921delA | p.Arg641Gly fs*100 | frameshift | 10 | Homo | LP | Rare rs765897698 | WES | 48X | MYOC Het.c.358delG | ||
| F4 | P6 | 2 | M | Y | c.1756dupG | p.Val586Gfs*17 | frameshift | 8 | Homo | LP | Novel | WES | 95X | No | ||
| P7 | 4 | F | Y | c.1756dupG | p.Val586Gf*17 | frameshift | 8 | Homo | LP | Novel | Y | No | ||||
| F5 | P8 | 2 | F | Y | c.985C>T | p.Gln329Ter | stop gain | 4 | Homo | LP | Novel | WES | 135X | No | ||
| P9 | 7 | F | Y | c.985C>T | p.Gln329Ter | stop gain | 4 | Homo | LP | Novel | WES | 100X | Y | No | ||
| F6 | P10 | 12 | M | Y | c.4237T>G | p.Cys1413Gly | missense | 29 | Homo | VUS | Novel | WES | 188X | No | ||
| F7 | P11 | 3 | F | Y | c.1201dupC | p.Gln401Profs*202 | frameshift | 6 | Homo | LP | Novel | WES | 84x | Y | No | |
| F8 | P12 | 6 | F | No | c.3131C>G | p.Ser1044Ter | stop gain | 20 | Homo | LP | Rare rs1343693948 | WES | 61X | Y | No | |
| F9 | P13 | 1 | M | Y | c.985C>T | p.Gln329Ter | stop gain | 4 | Homo | LP | Novel | WES | 111X | No | ||
| F10 | P14 | 4 | F | Y | c.4171dupG | p.Ala1391Glyfs*8 | frameshift | 28 | Homo | LP | Rare rs779044154 | WES | 100X | Y | No | |
| F11 | P15 | 10 | F | Y | c.1756dupG | p.V586Glyfs*17 | frameshift | 8 | Homo | LP | Novel | WES | 31X | Y | No | |
| F12 | P16 | 4 | M | Y | c.1756dupG | p.V586Glyfs*17 | frameshift | 8 | Homo | LP | Novel | WES | 106X | Y | No | |
| F13 | P17 | 5 | M | Y | c.4545_4552 delCGGCTTCC | p.Gly1516Leufs*9 | frameshift | 31 | Homo | LP | Rare rs144521879 | WES | 57X | Y | No | |
| F14 | P18 | 14 | M | Y | c.2811delA | p.Val939Cysfs*71 | frameshift | 18 | Homo | LP | Rare rs763673948 | WES | 42X | NR0B2 Het.c.227 delT | ||