Table 2.
AApoAI Patients, Mutations, and Tissue Sites
| Patient no. | Sex | Age (y) | Mutation (cDNA) | Mutation (protein) | Analyzed tissue sites | Histology |
|---|---|---|---|---|---|---|
| 1 | Female | 58 | c.460_461dupGC | p.Ala154fsX47 | Kidney | Glomerular amyloid deposits; no renal vascular deposits |
| 2 | Female | 48 | c.293_294insA | p.Asn74Lysfs | Uterus, ovaries, pelvic lymph nodes | Massive vascular and interstitial amyloid deposits |
| 3 | Female | 67 | c.293_294insA | p.Asn74Lysfs | Large intestine | Interstitial amyloid deposits |
| 4 | Female | 54 | c.296T>C | p.Leu75Pro | Small intestine, Heart | Interstitial amyloid deposits |
| 5 | Male | 52 | c.581T>C | p.Leu170Pro | Larynx | Subepithelial and interstitial amyloidosis |
| 6 | Male | 41 | c.296T>C | p.Leu75Pro | Liver | Massive amyloid deposits in portal tracts |