Table 4.
Mutations for large molecule IEMs
| Disease category | Disease | Gene | Reported mutations | Novel mutations | Founder Vs. Private | Type of mutation | |
|---|---|---|---|---|---|---|---|
| LSD | Sphingolipidosis | Fabry | GLA | c. 782G > T (p.Gly261Val) | Founder | Homozygous, missense | |
| Sandhoff disease | HEXB | c.1169 + 3_1169 + 10delAAGTTGTT (p.Gly65 AlafsX7) | Private | Deletion | |||
| Niemann-Pick disease type B | SMPD1 | c.1267 C > T (p.His423Tyr) | Founder | Homozygous, missense | |||
| Niemann-Pick disease type C | NPC1 | c.2130 + 1G > A; | Founder | Homozygous, intronic | |||
| c.2443_2444delp.ser815Leufs*54 | Private | deletion | |||||
| GM1 gangliosidosis | GLB1 | c.950G > A(p. Trp317*) | Private | Homozygous, nonsense | |||
| c.171C > G (p.Tyr57X) | Founder | Homozygous, missense | |||||
| Metachromatic leukodystrophy | ARSA | c.1108-2A > G | Private | Homozygous, intronic | |||
| Saposin B deficiency | PSAP | c.722G > C (p.Cys241Ser | Founder | Homozygous, missense | |||
| Krabbe disease | GALC | c.396G > A(p.Trp132*) | Private | Homozygous, nonsense | |||
| Mucopolysaccharidosis (MPS) | MPSI | IDUA | c.1868 T > C(p. Leu623Pro) | Private | Homozygous, missense | ||
| MPSII | IDS | c.405A > C(p. Lys135Asn) | Private | Homozygous, missense | |||
| MPSIIIA | SGSH | c.664-13C > G | Private | Homozygous, intronic | |||
| c.535G > A (p.Asp179Asn) | Private | Homozygous, missense | |||||
| MPS IVA | GALNS | c.120 + 1G > C (IVS1 + 1G > C) | Private | Homozygous, missense | |||
| c.860C > T (p.Ser287Leu) | Private | Homozygous, missense | |||||
| c.697G > A (p.Asp233Asn) | Private | Homozygous, missense | |||||
| MPSVI | ARSB | c.753C > G (p.Tyr251*) | Founder | Homozygous, nonsense | |||
| c.430A > G (p.His393ARG) | Founder | Homozygous, missense | |||||
| c.1079 T > C (p. Leu360Pro) | Private | Homozygous, missense | |||||
| Oligosaccharidosis | Mucolipidosis II | GNPTAB | c.3503_3504 delTC (p.Phex1172) | Private | Homozygous, deletion | ||
| α-mannosidosis | MAN2B1 | c.1340A > T (p.Asp447Val) | Private | Homozygous, missense | |||
| Others | NCL type 6 | CLN6 | c.794_796del(p.Ser265del) | Private | Homozygous, deletion | ||
| c.794_796delCCT | Private | Homozygous, deletion | |||||
| NCL type 8 | CLN8 | Homozygous deletion encompassing exon2 | Private | Homozygous, deletion | |||
| GSDII | GAA | c.1431delT(p. lle477fs) | Private | Homozygous, deletion | |||
| c.1657C > T(p. Gln553*) | Private | Homozygous nonsense | |||||
| Glycogen storage disease | GSDIII | AGL | c.4353G > T(p. Trp1451Cys); | Private | Homozygous, missense | ||
| GSDIV | GBE1 | c.998A > T (p.Glu 333 Val) | Private | Homozygous, missense | |||
| GSD IX | PHKG2 | c.130C > T (p.Arg44*) | Founder | Homozygous nonsense | |||
| PHKB | Deletion Exon 5 and 6 | Private | Homozygous, deletion | ||||
| Mitochondrial disorders | Leigh disease | MTATP6 | m.8993 T > G (p.Leu156Arg) | Private | Homoplasmic, missense | ||
| COX15 | c.649C > T (p.Arg217Trp) | Private | Homozygous, missense | ||||
| Pyruvate dehydrogenase deficiency | PDHA1 | c.1256_1259dup (p.Trp421Serfs*6) | Private | Heterozygous Duplication | |||
| PDHA1 | c.1132C > T (p.Arg378Cys) | Private | Hemizygous missense | ||||
| Pyruvate Carboxylase Deficiency | PC | c.3116_3126del (p.Leu1039Glnfs*7) | Private | Deletion | |||
| Mitochondrial DNA depletion syndrome 3 | DGUOK | c. 617G > A (p. R206k) | Private | Homozygous, missense | |||
| Mitochondrial DNA depletion syndrome 5 | SUCLA2 | c.362_363del (p.Ile121Serfs*38) | Private | Deletion | |||
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | SCO2 | c.2 T > C(p.Met1?) | Private | Homozygous, missense | |||
| 3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like | SERAC1 | c.438del (p.Thr147Argfs*22) | Private | Deletion | |||
| Primary CoenzymeQ10 deficiency type 5 | COQ9 | chr16_57485062C > T (p.His62Arg) | Private | Homozygous, missense | |||
| Peroxisomal disorders | Primary hyperoxaluria type 1 | AGXT | c.187G > C (p.Gly63Arg) | Founder | Homozygous, missense | ||
| Zellweger syndrome | PEX5 | c.1578 T > G (p.Asn526Lys) | Private | Homozygous, missense | |||
| Rhizomelic chondrodysplasia punctata type 1 | PEX7 | c.321_322delTA(p.Tyr107*) | Private | Homozygous, deletion | |||
| Congenital disorder of glycosylation (CDG) | CGD 1 L | ALG9 | c.1075G > A (p.E359K) | Private | Homozygous, missense | ||