Table 1.
Summary of X-linked Alport syndrome with somatic mosaicism
| Reference | Family or patient no. | Sex-Age | Pedigree | ESRD | Hematuria/Proteinuria | Renal biopsy IF EM | Genetic testing | cDNA | Amino acid | |
|---|---|---|---|---|---|---|---|---|---|---|
| 4 | Family 2 | F-3 | Proband | NA | +/+(0.2g/g Cr) | Mosaic | Typical | Blood | c.2147–2A>G; IVS28–2A>G | Exon 28 skip |
| F-3 | Sister | NA | +/NA | NP | NP | Blood | IVS28–2A>G | Exon 28 skip | ||
| M-38 | Father | NA | −/− | NP | NP | Blood and urine sediment | c.2147–2A>G; r.2147_2164del | Exon 28 skip p.Gly716_Pro721del; | ||
| 4 | Family 4 | F-6 | Proband | NA | +/+ | Mosaic | Typical | Blood and urine sediment | c.4787G>T | p.Gly1596Val |
| M-42 | Father | NA | +/− | NP | NP | Blood, urine sediment, and hair roots | ||||
| S5 | Family 3 | F -4 | Proband | NA | +/− | NA | Typical | Blood | c.2114G>A | p.Gly638Ser |
| M-NA | Father | 43 | −/− | NA | NA | Blood | ||||
| S7 | Patient 2 | F-11 | Proband | NA | +/+(1g/g Cr) | NA | Typical | Blood and urine sediment | c.2732G>Aa | p.Gly911Glu |
| S4 | Patient 52 | M-NA | Proband | NA | NA/NA | Mosaic | NA | Blood | c.1912G>A | p.Gly638Ser |
| S5 | Patient 1 | M-11 | Proband | NA | +/− | NP | NP | Blood | c.2208G>C | p.Gly669Ala |
| F-NA | Mother | NA | +/− | NP | NP | Blood | ||||
| S5 | Patient 2 | M-NA | Proband | 17 | +/− | NA | Typical | Blood | c.849–3C>A | Exon 12 skip |
| F-NA | Mother | NA | −/− | NA | NA | Blood | ||||
| S6 | Patient 1 | M-8 | Proband | NA | +/+(1g/24h) | Mosaic | Typical | Blood, urine sediment, hair roots, and skin | c.3998–2A>T | Exon 44 skip |
| S7 | Patient 1 | M-NA | Proband | NA | NA/NA | NA | NA | Blood | c.2405G>T | p.Gly802Val |
| F-NA | Mother | NA | +/+ | NP | NP | Blood | ||||
| S9 | Patient 1 | M-15 | Proband | NA | +/+ | NP | NP | Blood, urine sediment, hair roots, oral mucosa | c.2393–1G>A | Loss or exchange of Gly799 |
| F-46 | Mother | NA | +/NA | NP | NP | Blood, urine sediment, hair roots, oral mucosa | ||||
EM, electron microscopy of kidney biopsy; F, female; IF, immunofluorescence microscopy of kidney biopsy; M, male; NA, not available; NP, not performed; mosaic: mosaic alpha5 staining in glomerular basement membrane.
a
Modifier gene variant: COL4A3 exon 42 c.3691G>A (p.Gly1231Ser).