Table 1. TREM2 and TYROBP mutations identified in PLOSL.
| Mutation | Location | TREM2/TYROBP function change | Country | Reference |
|---|---|---|---|---|
| TYROBP | ||||
| Del 5.3 kb | Exons 1–4 | No TYROBP expression | Finland, Norway, Sweden | 12 |
| Del 8 kb | Exons 1–4 | No TYROBP expression | Brazil | 13 |
| 141 DelG | Exon 3 | Frame shift, truncated DAP12 protein | Japan | 12,18 |
| 2 T>C | Exon 1 | Met1Thr, no TYROBP expression | Japan | 18 |
| 145 G>C | Exon 3 | Nonfunctional truncated DAP12 | Portugal | 20 |
| 262 G>T | Exon 4 | Glu87Stp | Japan | 19 |
| 154–155ins42nt | Exon 3 | Insertion of 14 aa | UK | 21 |
| TREM2 | ||||
| 40 G→T | Exon 1 | Nonfunctional TREM2 | Germany | 26 |
| 97 C>T | Exon 2 | Gln33Stp, truncated TREM2 protein | Belgium, Italy | 13 |
| 132 G>A | Exon 2 | Truncated TREM2 protein | Bolivia | 13 |
| 267 DelG | Exon 2 | Frame shift | France | 21 |
| 313 DelG | Exon 2 | Frame shift | Germany | 21 |
| 377 T>G | Exon 2 | Val126Gly | Canada, UK | 21 |
| 401 A>G | Exon 3 | Asp134Gly, truncated TREM2 protein | USA | 13 |
| 482+2 T>C | Intron 3 | Splicing mutation, no functional TREM2 | Italy | 13 |
| 558 G>A | Exon 4 | TREM2 DAP12 no interaction | Norway | 13 |
Abbreviations: TREM2, triggering receptor expressed on myeloid cells-2; PLOSL, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; Del, deletion; Stp, stop codon; aa, amino acid; DAP12, DNAX-activating protein 12.