Dent Disease 1 Associated with a Rare Novel Renal Chloride Channel 5 Variant in a Chinese Family.

Abstract excerpt

Dent disease 1, an X-linked recessive proximal tubulopathy most commonly caused by CLCN5 variants, often presents with heterogeneous and nonspecific phenotypes that hinder clinical diagnosis in the absence of molecular data. We investigated a Chinese kindred with suspected hereditary renal disease using whole-exome sequencing and comprehensive in silico analyses and identified a novel frameshift variant in CLCN5...

Topics

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• Chloride Channels
• East Asian People
• Frameshift Mutation
• Genetic Diseases, X-Linked
• Kidney Calculi