Table 2. Summary of the Mutations Identified in 16 Positive Control Samples With Known Genetic Neuroinflammatory Diseases.
| Patient No. | Diagnosis | Known Gene Mutated | Nucleotide Change | Amino Acid Change | Zygosity | Read Depth | Allele Frequency | ||
|---|---|---|---|---|---|---|---|---|---|
| 1000G | ESP650 | ExAc | |||||||
| 1 | Glutaric acidemia IIC | ETFDH (NM_001281737) | c.578A>C | p.Glu193Ala | Homozygous | 98 | ND | ND | ND |
| 2 | Fabry disease | GLA (NM_000169) | c.274G>C | p.Asp92His | Heterozygous | 230 | ND | ND | ND |
| 3 | C1q deficiency | C1QB (NM_000491) | c.285del | p.Met95fs | Homozygous | 355del | ND | ND | 2.53 × 10−5 |
| 4 | Krabbe disease | GALC (NM_000153) | 30kb common del (Ex.11-17) | NA | Heterozygous | NA | ND | ND | ND |
| 5 | White matter disease | ERCC6 (NM_000124) | c.1665dup | p.Thr556Aspfs*9 | Heterozygous | 218 | ND | ND | ND |
| 6 | Metachromatic leukodystrophy | ARSA (NM_000487) | c.412del | p.His140fs | Heterozygous | 568 | ND | ND | ND |
| c.917C>T | p.Thr306Met | Heterozygous | 499 | ND | 1.8 × 10−5 | 1.01 × 10−5 | |||
| 7 | Aicardi-Goutières syndrome | TREX1 (NM_016381) | c.45C>G | p.Ile15Met | Homozygous | 470 | ND | ND | ND |
| 8 | Cockayne syndrome, type A | ERCC8 (NM_000082) | c.844-2A>G | NA | Heterozygous | 43 | ND | ND | ND |
| 9 | Autoimmune lymphoproliferative disease | FAS (NM_000043) | c.539-2A>C | NA | Heterozygous | 30 | ND | ND | ND |
| 10 | Familial hemophagocytic lymphohistiocytosis | STXBP2 (NM_006949) | c.1247-1G>C | NA | Homozygous | 155 | ND | 0.0003 | 0.0002 |
| 11 | Aicardi-Goutières syndrome | TREX1 (NM_016381) | c.859_876del | p.287_292del | Homozygous | 274 | ND | ND | 6.63 × 10−5 |
| 12 | Cryopyrin associated periodic fever syndrome | NLRP3 (NM_004895) | c.1699G>A | p.Glu567Lys (3% Mosaic) | Heterozygous | 387 | ND | ND | ND |
| 13 | X-linked lymphoproliferative disease | SH2D1A (NM_002351) | Gene del | NA | ND | ND | ND | ND | ND |
| 14 | Familial hemophagocytic lymphohistiocytosis | STX11 (NM_003764) | Gene del | NA | ND | ND | ND | ND | ND |
| 15 | Deficiency of adenosine deaminase type 2 | ADA2 (NM_001282225) | c.752C>T | p.Pro251Leu | Heterozygous | 151 | 2 × 10−4 | 0.0001 | 0.00003 |
| 5′UTR -12233delC | 5′UTR | Heterozygous | ND | 0.07 | ND | ND | |||
| 16 | Haploinsufficiency A20 | TNFAIP3 (NM_001270507) | c.811C>T | p.Arg271Ter | Heterozygous | 34 | ND | ND | ND |
Abbreviations: ADA2, adenosine deaminase type 2; ARSA, arylsulfatase A; C1QB, complement C1 q B chain; del, deletion; ERCC6, excision repair 6, chromatin remodeling factor; ERCC8, excision repair 8, CSA ubiquitin ligase complex subunit; ETFDH, electron transfer flavoprotein dehydrogenase; FAS, fas cell surface death receptor; GALC, galactosylceramidase; GLA, galactosidase A; kb, kilobases; NA, not applicable; ND, no data; NLRP3, NLR family pyrin domain containing 3; SH2D1A, SH2 domain containing 1A; STXBP2, syntaxin binding protein 2; STX11, syntaxin 11; TNFAIP3, tumor necrosis factor α-induced protein 3; TREX1, 3 prime repair exonuclease 1.