Table 3.
Urinary protein excretion
| Mutation | Albumin | Transferrin | VDBP | Apo A-I | α 1 -M | RBP |
|---|---|---|---|---|---|---|
|
AMN
|
|
|
|
|
|
|
|
c.208-2A>G/c.208-2A>G
A
|
x |
x |
x |
No + x |
x |
No |
| (p.Leu70Alafs) | ||||||
|
c.1006 + 11_1008del/c.1006 + 11_1008del |
x |
x |
x |
x |
x |
No |
|
(p.Glu337Asnfs) | ||||||
| c.1041_1042delinsCTC/c.208-2A>G
A
|
x |
x |
x |
x |
x |
No |
|
(p.Glu348Serfs/p.Leu70Alafs) | ||||||
|
CUBN
|
|
|
|
|
|
|
|
c.3335G>A/c.3335G>A |
x |
x |
x |
x |
x |
No |
|
(p.Gly1112Glu) | ||||||
|
c.3890C>T/c.3890C>T
B
|
(x) | (x) | (x) | (x) | (x) | No |
| (p.Pro1297Leu) |
Table 3 summarises the urinary protein excretion in the six families according to identified mutations. Urines were analysed by immunoblotting or high-resolution gel electrophoresis for urinary protein excretion of the cubilin ligands albumin, transferrin, VDBP, Apo A-I, α1-M as well as a selective ligand of megalin, RBP. Increased urinary excretion of the listed proteins is indicated with an x and with (x) if only trace amounts were observed. No + x indicates that not all the affected patients with this mutation showed similar increased urinary excretion.
APreviously described as c.208-2A>G, skipping of exon 4, fs[5]. BPreviously described by [4].