Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome

Tina Storm, Christina Zeitz, Olivier Cases, Sabine Amsellem, Pierre J. Verroust, Mette Østergård Madsen, Jean-François Benoist, Sandrine Passemard, Sophie Lebon, Iben Møller Jønsson, Francesco Emma, Heidi Koldsø, Jens Michael Hertz, Rikke Nielsen, Erik Christensen, Renata Kozyraki

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Imerslund-Grasbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is caused by mutations in either of the genes encoding the intestinal intrinsic factor-vitamin B12 receptor complex, cubam. The cubam receptor proteins cubilin and amnionless are both expressed in the small intestine as well as the proximal tubules of the kidney and exhibit an interdependent relationship for post-translational processing and trafficking. In the proximal tubules cubilin is involved in the reabsorption of several filtered plasma proteins including vitamin carriers and lipoproteins. Consistent with this, low-molecular-weight proteinuria has been observed in most patients with IGS. The aim of this study was to characterise novel disease-causing mutations and correlate novel and previously reported mutations with the presence of low-molecular-weight proteinuria.
Original languageEnglish
Article number111
JournalB M C Medical Genetics
Issue number1
Pages (from-to)1
Number of pages11
Publication statusPublished - 2013


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