Andreas Kronbichler: The Intronic Splice-Site Variants in Complement-Mediated Thrombotic Microangiopathy
Andreas Kronbichler, Director (Internal Medicine IV, Nephrology and Hypertension), Full Professor at Medizinische Universität Innsbruck, shared a post on LinkedIn about a recent article by Simon Péter Nagy, published in Kidney International Reports, adding:
“The intronic splice-site variants in complement-mediated thrombotic microangiopathy might reveal pathogenic variants that cause the disease.
In a ‘k-and-k’ collaboration, Hungarian-Austrian researchers have expanded our knowledge about c.328plus42G-A carriers and the development of almost complete factor I deficiency, a variant enriched in the CM-TMA database.
This finding further reinforces the relevance of complement genetic analysis in cases with suspected complement-mediated TMA, especially when no identifying cause can be detected!
Just published in the International Society of Nephrology Journal KidneyIntRep, with the contribution of Prof. Rudnicki from our unit.”
Title: Functional Characterization of a Novel Intronic Complement Factor I Variant in Factor I Deficiency and Atypical Hemolytic Uremic Syndrome
Authors: Simon Péter Nagy, Sarolta Dobner, Fanni Szumutku, Alice Schmidt, Gere Sunder-Plassmann, Christof Aigner, Michael Rudnicki, Michal Sedivy, Zoltán Prohászka, Ágnes Szilágyi
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