Table 1.
Previously reported indel pathogenic variants of TPP1
| Pathogenic variant (DNA) | Pathogenic variant (protein) | Position | Phenotype | Population | Ref |
|---|---|---|---|---|---|
| c.37dupC | p.Leu13ProfsX32 | E2 | LINCL | UK | [Kousi et al., 2012] |
| c.114delG | p.Trp38CysfsX12 | E3 | LINCL | UK | [Kousi et al., 2012] |
| c. 177-180delAAGA | p.E59DfsX20 | E3 | LINCL | Chinese | [Chang et al., 2012] |
| c.183_184delCT | p.S62Gfs*25 | E3 | LINCL | Chinese | [Lam et al., 2001] |
| c.274_274delT | p.Ser92Profs*3 | E4 | LSD | USA | [Sleat et al., 2009] |
| c.357_358insT | p.Leu120Serfs*18 | LINCL | USA | [Zhong et al., 2000] | |
| c.376_380delATCCG | p.Ile126Thrfs*10 | E4 | LINCL | USA | [Sleat et al., 1999] |
| c.381-17-4delTGTTCTCTGACCTC (IVS4) | Aberrant splicing | I4 | LINCL | Chinese | [Chang et al., 2012] |
| c.409-410insGCTG | p.E139GfsX1 | E5 | LINCL | Chinese | [Chang et al., 2012] |
| c.497dupA | p.His166GlnfsX22 | E5 | LINCL | Turkey | [Kousi et al., 2012] |
| c.538dupC | p.Leu180ProfsX9 | E6 | LINCL | Turkey | [Kousi et al., 2012] |
| c.822_837del | p.Leu275X | E7 | LINCL | UK | [Kousi et al., 2012] |
| c.688_688delT | p.Phe230Serfs*28 | E7 | LINCL | India | [Verma et al., 2015] |
| c.775_775delC | p.Arg259Valfs*17 | E7 | LINCL | Arab | [Goldberg-Stern et al., 2009] |
| c.992_993insCTC | p.331dupLeu | E8 | LINCL | NA | [Cooper et al., 2020] |
| c.969_976delGAGCTATG | p.Ser324Argfs*2 | E8 | LINCL | Italy | [Sleat et al., 1999] |
| c.1062delG | p.Leu355SerfsX72 | E8 | LINCL | Italy | [Kousi et al., 2012] |
| c.986_993delAGGACTCC | p.Glu329Alafs*12 | E8 | LINCL | Italy | [Santorelli et al., 2013] |
| c.1107-1108delTG | p.Gly370Lysfs*32 | E9 | LINCL | South America | [Kohan et al., 2013] |
| c.1424delC | p.Ser475TrpfsX13 | E11 | NCL | Canada | [Moore et al., 2008] |
| c.1425delinsAT | p.Ala476Cysfs*15/Aberrant splicing | I11 | LINCL | Iran | This study |
| c.1497delT | p.Gly501AlafsX18 | E12 | LINCL | Turkey | [Kousi et al., 2012] |
| c.1547_1548delTT | p.Phe516X | E12 | LINCL | Turkey | [Kousi et al., 2012] |
| c.1546-1547insTTCA | p.Asp517His fsX1 | E12 | LINCL | Chinese | [Chang et al., 2012] |
| c.1551+5_1551+6delGTinsTA | Splice defect | I12 | LINCL | Portugal | [Kousi et al., 2012] |
| c.1595_1596insA | p.Gln534Profs*74 | E13 | LINCL | USA | [Sleat et al., 1999] |
| c.1608_1618delCTGCTCTGGTC | p.Cys537Trpfs*67 | E13 | LINCL | USA | [Hofmann et al., 2002] |
| c.1677_1678delTC | p.Leu560Thrfs*47 | E13 | LINCL | USA | [Sleat et al., 1999] |
LINCL, late infantile neuronal ceroid lipofuscinosis; LSD, lysosomal storage disease.