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Table 3 Urinary protein excretion

From: Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

Mutation

Albumin

Transferrin

VDBP

Apo A-I

α1-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)

  1. 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.
  2. APreviously described as c.208-2A>G, skipping of exon 4, fs[5]. BPreviously described by [4].