Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis.
Mikako WarrenMoe TakedaArthur PartikianLawrence OpasRichard FineShoji YanoPublished in: Pediatric nephrology (Berlin, Germany) (2020)
De novo truncating mutations of TRIM8 have been previously reported in childhood-onset epileptic encephalopathy. A molecular analysis of TRIM8 should be considered in children with FSGS and clinical abnormalities of the central nervous system.