Table 1 Clinical characteristics and identified variants in three probands with Alport syndrome and their family members
Family no. and the individual pedigree ID | Age (years) | Mutation | Model | Microhematuria | Macrohematuria | Proteinuria | Creatinine | eGFR | Hearing deficiency | Visual deficiency | Ultrastructural microscopy | Mutations in modifier genes |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family 1 (IV; 4) | 22 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Persistent | – | 0,3 g/dL | – | – | – | – | GBM thinning | c.5149C > T (p.(His1717Tyr)) LAMA5 + [=] |
Family 1 (IV; 5) | 19 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Present | – | 0,09 g/24 h | 0,74 mg/dL | 122,8 ml/min | – | – | – | c.5149C > T (p.(His1717Tyr)) LAMA5 + [=] |
Family 1 (IV; 6) | 16 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Present | – | 0,08 g/24 h | 0,57 mg/dL | 152 ml/min | – | – | – | c.5149C > T (p.(His1717Tyr)) LAMA5 + [=] |
Family 1 (III; 6) | 47 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Persistent | – | Intermittent | – | – | Low frequency hypoacusia | – | – | c.5149C > T (p.(His1717Tyr)) LAMA5 + [=] |
Family 1 (III; 7) | 47 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Present | – | Intermittent | 0,54 mg/dL | 112,4 ml/min | Hypoacusia | – | – | c.5149C > T (p.(His1717Tyr)) LAMA5 + [=] |
Family 1 (II; 4) | 67 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Persistent | Persistent | Intermittent | 0,9 mg/dL | 82,5 ml/min | Bilateral Hypoacusia | Opalescence in the nucleus of the crystalline | – | – |
Family 1 (III; 4) | 36 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Absent | Absent | – | Absent | Absent | Absent | Absent | – | – |
Family 1 (III; 5) | 24 | Absent | ADAS | Absent | Absent | – | – | – | – | – | – | – |
Family 1 (III; 2) | 54 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Absent | Absent | Absent | Absent | Absent | Absent | Absent | – | – |
Family 1 (III; 3) | 51 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Absent | Absent | Absent | Absent | Absent | Absent | Absent | – | – |
Family 1 (III; 1) | 47 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Absent | Absent | Intermittent | 1,06 mg/dL | – | Absent | Absent | n/a renal cystis at the ultrasound | c.5149C > T (p.(His1717Tyr)) LAMA5 + [=] |
Family 1 (IV; 1) | 19 | Absent | ADAS | Absent | Absent | Absent | Absent | Absent | Absent | Absent | – | – |
Family 1 (IV; 2) | 15 | c.1109G > A (p.(Gly370Glu)) COL4A4 | ADAS | Absent | Absent | Absent | Absent | Absent | Absent | Absent | – | c.5149C > T (p.(His1717Tyr)) LAMA5 + [=] |
Family 1 (IV; 3) | 10 | Absent | ADAS | Absent | Absent | Absent | Absent | Absent | Absent | Absent | – | – |
Family 2 (II; 2) | 26 | c.3319G > A (p.(Gly1107Arg)) COL4A5 | XLAS | Present | Present in childhood | 1,71 g/24 h | 1,30 mg/dL | 75,8 ml/min | Absent | Absent | Thickening, thinning, podocytes foot processes fusion | c.9388C > T (p(His3130Tyr)) + [=] LAMA5 |
Family 2 (I; 2) | 50 | c.3319G > A (p.(Gly1107Arg)) COL4A5 | XLAS | Present | Absent | – | – | – | Absent | Absent | No ultrastructural lesions | – |
Family 2 (I; 1) | 53 | None | n/a | Present | Absent | – | – | – | Monolateral hypoacusia | Absent | n/a | c.9388C > T (p(His3130Tyr)) + [=] LAMA5 |
Family 3 (III; 2) | 22 | c.4444delC (p.(Leu1482Trpfs*70)) COL4A4 | ADAS | Persistent | Absent | – | 0,61 mg/dL | 1443,8 ml/min | Mild bilateral hypoacusia | Absent | Thickening, thinning, podocytes foot processes retraction, podocytes buldging | c.686G > A (p.(Arg229Gln)) NPHS2; c.2321C > T (p.(Thr774Ile)) + [=] LAMA5 |
Family 3 (II; 3) | 52 | c.4444delC (p.(Leu1482Trpfs*70)) COL4A4 | ADAS | Present | Absent | 0,5 g/24 h | 0,80 mg/dL | 102 ml/min | Mild bilateral hypoacusia | NA in Clinical Folder | n/a | c.686G > A (p.(Arg229Gln)) NPHS2; c.2321C > T (p.(Thr774Ile)) + [=] LAMA5 |