Table 1.
Families reported in the literature with Alys.
| Family | Mutation | Ethnicity | Dominant clinical features |
|---|---|---|---|
| 1 | W64R/TGG/CGG | French [1] | Nephropathy/Sicca syndrome |
| 2 | W64R/TGG/AGG | Italian [2] | Gastrointestinal |
| 3 | W64R/TGG/AGG | Italian [3] | Gastrointestinal |
| 4 | W64R/TGG/AGG | French [4] | Internal organ bleeding |
| 5 | I56T | English [5] | Nephropathy/easy bruisability |
| 6 | F57I | Italian [6] | Nephropathy |
| 7 | D67H | English [7] | Internal organ bleeding |
| 8 | D67H | English [8] | Nephropathy/GI bleeding |
| 9 | pTyr54Asn | Swedish [9] | Gastrointestinal/Sicca syndrome |
| 10 | I56T (our case) | South Asian | Gastrointestinal/nephropathy/internal organ bleeding |
| 11 | p.Leu102Ser | English with mixed lineage [10] | Nephropathy/neuropathy/gastrointestinal/cardiac |
| 12 | W64R/TGG/AGG | Italian [11] | Gastrointestinal |
| 13 | Mutation not specified; however, lysozyme C confirmed as amyloidogenic protein per LCMS | English [12] | Nephropathy/internal organ bleeding |
| 14 | D67H | English [13] | Internal organ bleeding |