A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report.

Yoko ShiraiKenichiro MiuraNaoto KanekoKiyonobu IshizukaAmane EndoTaeko HashimotoShoichiro KandaYutaka HaritaMotoshi Hattori

Published in: BMC nephrology (2021)

We reported a patient with FSGS, associated with a de novo heterozygous TRIM8 variant, without any neurological manifestations. Our results expanded the clinical phenotypic spectrum of TRIM8 variants.

Keyphrases

early onset
case report
gene expression
dna methylation
young adults
blood brain barrier
childhood cancer