DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.

doi:10.1016/j.ajhg.2020.11.008

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Article

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.

American journal of human genetics - 3 Dec 2020

Schneider Ronen, Deutsch Konstantin, Hoeprich Gregory J, Marquez Jonathan, Hermle Tobias, Braun Daniela A, Seltzsam Steve, Kitzler Thomas M, Mao Youying, Buerger Florian, Majmundar Amar J, Onuchic-Whitford Ana C, Kolvenbach Caroline M, Schierbaum Luca, Schneider Sophia, Halawi Abdul A, Nakayama Makiko, Mann Nina, Connaughton Dervla M, Klämbt Verena, Wagner Matias, Riedhammer Korbinian M, Renders Lutz, Katsura Yoshichika, Thumkeo Dean, Soliman Neveen A, Mane Shrikant, Lifton Richard P, Shril Shirlee, Khokha Mustafa K, Hoefele Julia, Goode Bruce L, Hildebrandt Friedhelm

Abstract excerpt

The discovery of >60 monogenic causes of nephrotic syndrome (NS) has revealed a central role for the actin regulators RhoA/Rac1/Cdc42 and their effectors, including the formin INF2. By whole-exome sequencing (WES), we here discovered bi-allelic variants in the formin DAAM2 in four unrelated families with steroid-resistant NS. We show that DAAM2 localizes to the cytoplasm in podocytes and in kidney sections....

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Identifiers

PMID: 33232676
DOI: 10.1016/j.ajhg.2020.11.008
PMCID: PMC7820625

Genes

DAAM2
INF2

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