シライ　ヨウコ   Shirai Youko   白井　陽子    所属   医学部 医学科（東京女子医科大学病院）    職種   助教
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report.
掲載誌名	正式名：BMC nephrology 略　 称：BMC Nephrol ISSNコード：14712369/14712369
掲載区分	国外
巻・号・頁	22(1),pp.417
著者・共著者	Shirai Yoko, Miura Kenichiro, Kaneko Naoto, Ishizuka Kiyonobu, Endo Amane, Hashimoto Taeko, Kanda Shoichiro, Harita Yutaka, Hattori Motoshi
発行年月	2021/12
概要	BACKGROUND:Heterozygous truncating variants in the Tripartite motif containing 8 (TRIM8) gene have been reported to cause epileptic encephalopathy, both with and without proteinuria. A recent study showed a lack of TRIM8 protein expression, with suppressor of cytokine signaling 1 (SOCS1) overexpression, in podocytes and tubules from a patient with a TRIM8 variant, who presented with epileptic encephalopathy and focal segmental glomerulosclerosis (FSGS). To date, no patients with TRIM8 variants who presented with nephrotic syndrome but without neurological manifestations have been described.CASE PRESENTATION:An 8-year-old girl presented with nephrotic syndrome, without epilepsy or developmental delay. Her kidney biopsy specimens showed FSGS and cystic dilatations of the distal tubules. Whole-exome sequencing identified a novel de novo heterozygous variant in the C-terminal encoding portion of TRIM8 (c.1461C > A), resulting in a premature stop codon (p.Tyr487*). Reverse transcription-polymerase chain reaction using peripheral blood mononuclear cells identified the mRNA sequence of the mutant allele, which confirmed an escape from nonsense-mediated mRNA decay. Immunofluorescence studies showed a lack of TRIM8 expression in glomerular and tubular cells and cystic dilatation of distal tubules. Immunohistochemical studies showed overexpression of SOCS1 in glomerular and tubular cells.CONCLUSIONS: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.
DOI	10.1186/s12882-021-02626-1
PMID	34930159