Table 2.
Alg9 loss-of-function mutations carriers with abdominal imaging among 92,455 patients in a health system
| Identifier/Gender | Nucleotide Changea | Amino Acid Change | MAF gnomAD | Imaging Type (age)b | Kidney Cystsc | TSTCc | Nephrolithiasisd | eGFR (age)e |
|---|---|---|---|---|---|---|---|---|
| Cases in case-control analysis | ||||||||
| Kidney cysts | ||||||||
| MC2/F | c.427C>T | p.R143X | Novel | MRI (65) | 10 | 18 | Y | 60 (65) |
| MC3/M | c.1295C>A | p.S432X | Novel | US (73) | Innumerable | — | + | 26 (75) |
| MC5/F | c.1018+1G>A | Splice variant | Novel | CT+ (86) | 39f | 51 | Yg | 38 (96) |
| MC7/M | c.1472delA | p.N491IfsTer33 | Novel | CT+ (69) | 6 (9) | 22 | Y | 74 (73) |
| MC9/F | c.506dupT | p.S170EfsTer24 | Novel | US (66) | 5 | — | + | 90 (66) |
| MC10/M | c.883_885delCCT_insGTAAA | p.P295VfsTer13 | Novel | CT+ (68) | 9 | 21 | Y | 52 (75) |
| MC12/F | c.511C>T | p.R171X | 8.13E−06 | CT+ (61) | 4 (9) | 20 | — | 46 (63) |
| One or fewer cysts | ||||||||
| MC1/M | c.1018+1G>A | Splice variant | Novel | CT+ (42) | — | 1 | — | 50 (51) |
| MC4/F | c.1088_1091delTCCA | p.I363SfsTer52 | 4.06E−06 | CT+ (82) | — | — | — | 47 (85) |
| MC8/F | c.3G>A | Start loss | Novel | CT+ (37) | — | 1 | — | 72 (44) |
| MC14/F | c.3G>A | Start loss | Novel | MRI+ (37) | 1 | 3 | + | 90 (44) |
| Cases not matched for case-control analysis | ||||||||
| MC6/M | c.1018+1G>A | Splice variant | Novel | CT+ (76) | Yh | — | 47 (78) | |
| MC11/F | c.1363C>T | p.R455X | 4.06E−06 | CT (70) | Yh,i | — | ESKD (66) | |
| MC13/F | c.566-1G>A | Splice variant | 1.22E−05 | CT+ (49) | Yh | — | 97 (50) | |
US, ultrasound.
ENST00000616540.4 (CCDS73380).
+, with contrast.
Kidney cysts (>8 mm) and lesions TSTC (4–8 mm) as described in Methods and Results. When additional imaging allowed for recharacterization of indeterminate masses as cysts, cyst count inclusive of these is noted in parentheses after count from originally selected image.
Noted during blinded analysis. Y, yes; +, nephrolithiasis noted on additional CT scan if available.
Most recent outpatient eGFR.
Among cases with liver imaging, this was the only case with liver cysts noted.
Pathology of bilateral nephrolithiasis demonstrated uric acid composition.
Based on clinical radiology report.
Native kidneys by CT 2/4 yr after transplant/ESKD.