Table 2.
Patients with LAMB2 mutations*: genotype and phenotypic features
| Family # | Patient | Genotypea | Total number of affected individuals |
Age of death (†)/ last follow-up |
Age at diagnosis of nephrotic proteinuria |
Onset of ESRD/Age at initiation of RRT |
Kidney biopsy result |
Microcoria | Other major ocular abnormalities |
Microcephaly | Neurodevelopmental deficits |
Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1.1 | [p.V79del]+[p.Q1728X] | 7 | 20 y | NA | 4 y | NA | − | NA | − | - | Matejas et al. |
| 1.2 | 8y (†) | NA | 5 y | DMS | − | C, R, VI | − | - | ||||
| 1.3 | NA | 4.5 y | 16 y | FSGS | − | Mi, C, R, VI | − | - | ||||
| 2 | 2.1 | [p.S80R]+ [p.S80R] | 1 | 12 y | 6.5 | - | atypical DMS | − | My, R | − | - | This report |
| 3 | 3.1 | [p.Q125X] + ? | 1 | 2m (†) | 1 w | 2 w | DMS, MGN | + | L | + | H | Bredrup et al.[2008] |
| 4 | 4.1 | [p.L139P] + [p.L139P] | 3 | 12m (†) | 3 m | - | DMS? | + | L, VI | − | H, M, C | This report |
| 4.2 | 1.5w (†) | < 1 w | - | NA | − | VI | − | NA | ||||
| 4.3 | 5m (†) | < 1 w | - | NA | − | L, VI | − | H, M | ||||
| 5 | 5.1 | [p.I149del]+[p.G1693VfsX21] | 1 | 2m (†) | 1 w | < 1m | NA | + | VI | − | H | Bredrup et al.[2008] |
| 6 | 6.1 | [p.D167Y]+ [p.D167Y] | 2 | 3.7 y | 1 m | 19 m | MCD | − | My, R, VI | − | - | Kagan et al. [2008] |
| 7 | 7.1 | [p.S179F]+[p.S762RfsX29] | 1 | 1.5 y | 2 w | 1.5 y | FSGS | − | R, VI | − | - | Choi et al. [2008] |
| 8 | 8.1 | [p.R246W]+[p.R246W] | 2 | 8m (†) | 5 m | - | DMS | + | L | − | H, M | Zenker et al. [2004]2 |
| 8.2 | 8m (†) | 1 w | - | DMS | + | L | − | H. M | ||||
| 9 | 9.1 | [p.R246W]+[p.R575X] | 2 | 16 m | 1 w | 5 m | NA | + | L, VI | + | H, M, C | Bredrup et al.[2008] |
| 9.2 | 1y (†) | < 1 m | - | DMS | + | N, My | − | H, M, C | ||||
| 10 | 10.1 | [p.R246W]+[p.Q1733X] | 1 | 2 m | 1 m | - | NA | + | NA | − | NA | This report |
| 11 | 11.1 | [p.R246W]+[p.R246W ] | 1 | 19m (†) | 2 w | 13 m | FSGS | + | L | − | M | Bredrup et al.[2008] |
| 12 | 12.1 | [p.R246W]+[p.R246W] | 5 | 3m (†) | < 1 m | NA | NA | NA | N | − | NA | This report |
| 13 | 13.1 | [p.R246Q]+[p.R246Q] | 2 | 5y (†) | 1 m | < 12m | FSGS | − | - | − | - | Hasselbacher et al. [2006] |
| 13.2 | 3 y | 1 w | < 12 m | NA | − | - | − | - | ||||
| 14 | 14.1 | [p.Y275X]+[p.Y275X] | 2 | 1 m | < 1 w | < 1 w | DMS | + | VI | − | NA | This report |
| 15 | 15.1 | [p.C321R]+[p.L1393F] | 2 | 7 y | 3 m | 5.7 y | MCD | − | N, My, R, VI | − | - | Hasselbacher et al. [2006] |
| 15.2 | 3.5 y | 1 w | 8 m | O | (+) | R, VI | − | - | ||||
| 16 | 16.1 | [c.1036+6_9del]+[c.1036+6_9del] | 1 | 2 m | 7 w | 7 w | NA | + | Mi, R | − | M, S | This report |
| 17 | 17.1 | [p.C374X]+[p.Y689X] | 2 | 2w (†) | 1 w | 1 w | DMS | + | L | − | H | Zenker et al. [2005] |
| 17.2 | 1.5w (†) | 1 w | 1 w | DMS | + | L | − | NA | ||||
| 18 | 18.1 | [p.M415PfsX83]+[p.Q418X] | 1 | 15m (†) | < 1mo | 3 m | NA | + | Mi, L, VI | + | H, M, C | Wühl et al. [2007] |
| 19 | 19.1 | [c.1405+1G>A]+[p.E1260DfsX8] | 2 | 6w (†) | < 1w | 1 m | NA | + | L, VI | NA | NA | Bredrup et al.[2008] |
| 20 | 20.1 | [c.1405+1G>A]+[c.1405+1G>A] | 1 | 16m (†) | 1 w | 3 w | DMS | + | N, R, VI | − | H, M, C | Bredrup et al.[2008] |
| 21 | 21.1 | [p.C493AfsX4]+[c.3327+2T>C] | 1 | 8.3 y | 1.5 m | 2.9 y | DMS | + | My, L, VI | − | - | Wühl et al. [2007] |
| 22 | 22.1 | [p.C493AfsX4]+[p.E1301GfsX58] | 1 | 5 y | < 1m | < 1m | DMS | + | VI | − | H, M, C | Wühl et al. [2007] |
| 23 | 23.1 | [p.C493SfsX4]+[p.Q1602RfsX52] | 1 | 20 y | 1 w | 12 m | DMS | + | My | − | H, M | Maselli et al. [2009] |
| 24 | 24.1 | [p.C502X]+[p.C1423VfsX29] | 1 | 7.5 y | 8 m | - | MCD | + | N, My, VI | − | - | Choi et al. [2008] |
| 25 | 25.1 | [p.L627AfsX5]+[p.R1502GfsX18] | 2 | 4w (†) | 1 w | 2 w | DMS | + | L, Mi, VI | − | H | Bredrup et al.[2008] |
| 26 | 26.1 | [p.V808WfsX343]+[p.V808WfsX343] | 2 | 8m (†) | 1 w | 2 m | DMS | + | N | + | H, M, S | Bredrup et al.[2008] |
| 27 | 27.1 | [p.Q868X]+[p.C1058X] | 1 | 4.5m (†) | 2 w | 4 m | atypical DMS | + | N, VI | − | H | Bredrup et al.[2008] |
| 28 | 28.1 | [p.Q1006NfsX145]+[p.Q1006NfsX145] | 8 | 2–8 w | < 1m | < 1m | DMS | + | NA | NA | Zenker et al. [2004]1 | |
| 29 | 29.1 | [p.Q1006AfsX49]+[p.R1148SfsX27] | 1 | 18 y | 3 m | 3 y | DMS | − | VI (glaucoma) | − | - | This report |
| 30 | 30.1 | [p.R1032X]+[p.R1032X] | 1 | 4m (†) | 1 w | 1 m | DMS | + | L | + | NA | Bredrup et al.[2008] |
| 31 | 31.1 | [p.C1058X]+[c.3798-2A>C] | 1 | 10 y | 2 m | 3 m | NA | + | N, My, VI | − | - | Bredrup et al.[2008] |
| 32 | 32.1 | [c.3982+1G>T]+[c.3982+1G>T] | 2 | 5 y | < 3 y | - | DMS | + | L, N, Mi, VI | − | - | This report |
| 32.2 | 6m (†) | < 6 m | 6 m | NA | NA | NA | NA | NA | ||||
| 33 | 33.1 | [p.R1502GfsX18]+[p.Q1507X] | 1 | 2m (†) | 1w | 2 m | DMS | + | N, VI, L | − | NA | Zenker et al. [2004]2 |
| 34 | 34.1 | [p.L1512FfsX8]+[ p.L1512FfsX8] | 1 | 1m | < 1w | 2 w | DMS | + | - | − | - | This report |
| 35 | 35.1 | [c.4573+1G>A]+[c.4573+1G>A] | 3 | 5 y | < 1 w | - | NA | − | N, My, R | − | - | This report |
| 35.2 | 21 y | 3 y | 21 y | MGN | − | N, My, R | − | - | ||||
| 35.3 | 15 y | 5 y | 9 y | FSGS | − | N, My, R | − | - | ||||
| 36 | 36.1 | [p.R1562X]+[p.R1562X] | 3 | 1m (†) | < 1m | < 1m | DMS | + | L | H | Zenker et al. [2004]1 | |
| 37 | 37.1 | [p.R1594KfsX5]+[p.R1594KfsX5] | 1 | 1m (†) | < 1w | < 1m | NA | + | L | − | C | This report |
| 38 | 38.1 | [p.E1636AfsX22]+[p.E1636AfsX22] | 1 | 6w (†) | 1 w | < 1 m | DMS | + | L | − | H, M | This report |
| 39 | 39.1 | [p.E1754GfsX7]+[p.E1754GfsX7] | 1 | 19m (†) | < 1m | < 1m | DMS | + | L, N, VI | + | H, M | Zenker et al. [2004]2 |
*
The numbering for the nucleotide changes are based on cDNA sequence in accordance with the GenBank entries NM_002292.3, NP_002283.3, and NT_022517.18 (GRCh37).
a
For cDNA numbering, +1 corresponds to the A of the ATG translation initiation codon in the reference sequence y, year(s); m, month(s); w, week(s); NA, not done/not available; MCD, minimal changes; DMS, diffuse mesangial sclerosis; FSGS, focal and segmental glomerulosclerosis; MGN, membranous glomerulonephritis; O, other; +, present; −, not present/none; Mi, microphthalmia; My, high myopia (> 5 diopters); N, nystagmus; L, abnormal lens (either lenticonus or cataract); R, retinal detachment; VI, severe visual impairment of any cause and despite correcting glasses; H, significant hypotonia/muscular weakness/myasthenia; M, significant motor delay; C, suspected or proven cognitive deficits, speech delay; S, seizures; MR, mental retardaion