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2021•Kidney International ReportsOpen access

POS-430 CRISPR/CAS9 TARGETING TTTC30A MIMICS CILIARY CHONDRODYSPLASIA WITH POLYCYSTIC KIDNEY DISEASE

Maike Getwan, Anselm Hoppmann, Pascal Schlosser, Anna Köttgen, G. Kelli, Soeren S. Lienkamp

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Abstract

Ciliopathies are caused by mutations in genes encoding ciliary proteins and can affect multiple organ systems including the kidney. Nephronophthisis-like cystic kidney disease frequently occurs in patients with skeletal ciliopathies (e.g. Jeune syndrome, short-rib polydactyly syndrome, Sensenbrenner syndrome), which have rib malformations, brachy-, and polydactyly. Recent progress in genetic mapping of causative loci have implicated intra flagellar transport (IFT) of primary cilia in the pathogenesis.

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What this paper is about

Ciliopathies are caused by mutations in genes encoding ciliary proteins and can affect multiple organ systems including the kidney. Nephronophthisis-like cystic kidney disease frequently occurs in patients with skeletal ciliopathies (e.g. Jeune syndrome, short-rib polydactyly syndrome, Sensenbrenner syndrome), which have rib malformations, brachy-, and polydactyly. Recent progress in genetic mapping of causative loci have implicated intra flagellar transport (IFT) of primary cilia in the pathogenesis.

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Available abstract

Ciliopathies are caused by mutations in genes encoding ciliary proteins and can affect multiple organ systems including the kidney. Nephronophthisis-like cystic kidney disease frequently occurs in patients with skeletal ciliopathies (e.g. Jeune syndrome, short-rib polydactyly syndrome, Sensenbrenner syndrome), which have rib malformations, brachy-, and polydactyly. Recent progress in genetic mapping of causative loci have implicated intra flagellar transport (IFT) of primary cilia in the pathogenesis.

Key concepts: Ciliopathies, Cilium, Polydactyly, Nephronophthisis, Ciliopathy, Medicine, Autosomal Recessive Polycystic Kidney Disease, Bardet–Biedl syndrome

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POS-430 CRISPR/CAS9 TARGETING TTTC30A MIMICS CILIARY CHONDRODYSPLASIA WITH POLYCYSTIC KIDNEY DISEASE — Research Paper | ScholarLens