Table 4. Variants detected in this study by TNGS and Sanger sequencing.
| Gene | Sequence reference | Location | cDNA change | Protein change | dbSNP | Mutation type | NGS detected |
|---|---|---|---|---|---|---|---|
| GLA | NM_000169 | Exon 01 | c.32delG | p.Gly11fs | - | Deletion | Yes |
| Exon 01 | c.4C > T | p.Gln2Ter | - | Nonsense | Yes | ||
| Exon 01 | c.167G > A | p.Cys56Tyr | - | Missense | Yes | ||
| Exon 02 | c.334C > T | p.Arg112Cys | rs104894834 | Missense | Yes | ||
| Exon 03 | c.456C > A | p.Tyr152Ter | - | Nonsense | Yes | ||
| Exon 04 | c.605G > A | p.Cys202Tyr | rs869312344 | Missense | Yes | ||
| Exon 05 | c. 644A > G | p.Asn215Ser | rs28935197 | Missense | Yes | ||
| Exon 05 | c.776C > G | p.Pro259Arg | - | Missense | Yes | ||
| Exon 05 | c. 790G > T | p.Asp264Tyr | rs190347120 | Missense | Yes | ||
| Exon 07 | c.1102G > A | p.Ala368Thr | rs144994244 | Missense | Yes | ||
| NAGA | NM_000262.2 | Exon 03 | c. 279G > A | p.Pro93Pro | rs133369 | Missense | Yes |
| Exon 06 | c.720G > A | p.Gln240Gln | - | Missense | Yes | ||
| Exon 08 | c.973G > A | p.Glu325Lys | rs121434529 | Missense | Yes | ||
| GAA | NM_001079804 | Intron 01 | c.-32-13T > G | - | rs386834236 | Splicing | Yes |
| Exon 03 | c.596A > G | p.His199Arg | rs1042393 | Missense | Yes | ||
| Exon 03 | c.668G > A | p.Arg223His | rs1042395 | Missense | Yes | ||
| Intron 8 | c.1327-18A > G | - | rs2278619 | Intron variant | Yes | ||
| Exon 09 | c.1374C > T | p.Tyr458Tyr | rs1800305 | Missense | Yes | ||
| Exon 10 | c.1465G > A | p.Asp489Asn | rs398123169 | Missense | Yes | ||
| Exon 10 | c.1504A > G | p.Met502Val | rs376067362 | Missense | Yes | ||
| Exon 14 | c.1905C > A | p.Asn635Lys | - | Missense | Yes | ||
| Exon 14 | c.1941C > G | p.Cys647Trp | - | Missense | Yes | ||
| Intron 14 | c.2040+20A > G | - | rs2304836 | Intron variant | Yes | ||
| Exon 15 | c.2065G > A | p.Glu689Lys | rs1800309 | Missense | Yes | ||
| Exon 18 | c.2560C > T | p.Arg854Ter | rs121907943 | Nonsense | Yes | ||
| NPC1 | NM_000271.4 | Exon 02 | c.114_122del GAGGTACAA | p.Lys38_Tyr40del | - | Deletion | Yes |
| Exon 05 | c.530G > A | p.Cys177Tyr | rs80358252 | Missense | Yes | ||
| Exon 5,∐8,∐12 | c.[547G > A;1093T > C;1937G > A] | p.[Ala183Thr;Ser365Pro;Arg646His] | rs111256741,∐-,∐ rs112387560 | Missense | Yes | ||
| Exon 20 | c.3019C > G | p.Pro1007Ala | rs80358257 | Missense | Yes | ||
| Exon 21 | c.3104C > T | p.Ala1035Val | rs28942107 | Missense | Yes | ||
| Exon 21 | c.3182T > C | p.Ile1061Thr | rs80358259 | Missense | Yes | ||
| Intron 22 | c.3477+3 insCA | - | - | Insertion | Yes+ | ||
| Exon 24 | c.3662_3662delT | p.Phe1211fs | - | Deletion | Yes | ||
| NPC2 | NM_006432 | Exon 01 | c.58G > T | p.Glu20Ter | rs80358260 | Nonsense | Yes |
| GBA1 | NM_001005742 | Exon 07 | c.850C > A | p.Pro245Thr | - | Missense | Yes |
| Exon 07 | c.982_983insTGC | p.Leu327dup | rs121908298 | Yes | |||
| Exon 09 | c.1226A > G | p.Asn370Ser | rs76763715 | Missense | Yes | ||
| Exon 09 | c.1251G > C | p.Trp378Cys | - | Missense | Yes | ||
| Exon 10 | c.1448T > G | p.Leu444Pro | rs421016 | Missense | Yes | ||
| Exon 10 | c.[1448T > G;1483G > C;1497G > C] | p.[Leu444Pro; Ala456Pro; Val460Val] | - | Missense | No | ||
| LIPA | NM_001127605 | Exon 02 | c.67G > A | p.Gly23Arg | rs1051339 | Missense | Yes |
| Exon 08 | c.894G > A | p.Glu298Glu | rs116928232 | Missense | Yes | ||
| Exon 10 | c.1204G > A | p.Gly342Arg | - | Missense | Yes | ||
| Intron 05 | c.539-5C > T | - | rs2297472 | Intron variant | Yes | ||
| SMPD1 | NM_000543 | Exon 01 | c.107T > C | p.Val36Val | rs1050228 | Missense | Yes |
| Exon 02 | c.338G > A | p.Arg113His | rs149770879 | Missense | Yes | ||
| Exon 02 | c.573delT | p.Ser192fs | rs727504167 | Deletion | No | ||
| Exon 02 | c.636T > C | p.Asp212Asp | rs7951904 | Missense | Yes | ||
| Exon 02 | c.690C > G | p.Arg230Arg | - | Missense | Yes | ||
| Exon 02 | c.714A > G | p.Ala238Ala | rs2682091 | Missense | Yes | ||
| Exon 02 | c.739G > A | p.Gly247Ser | rs587779408 | Missense | Yes | ||
| Exon 06 | c.1522GC | p.Gly508Arg | rs1050239 | Missense | Yes | ||
| Exon 06 | c.1749G > A | p.Ser583Ser | rs35098198 | Missense | Yes | ||
| Exon 06 | c.1805G > C | p.Arg602Pro | - | Missense | Yes | ||
| Exon 06 | c.1805G > A | p.Arg602His | rs370129081 | Missense | Yes | ||
| Exon 06 | c.1826_1828delGCC | p.Arg608del | rs120074118 | Deletion | Yes | ||
| CHIT1 | NM_003465.2 | Exon 04 | c.304G > A | p.Gly102Ser | rs2297950 | Missense | Yes |
+: new mutation, confirmed by Sanger sequencing.