De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review.

ABSTRACT:

Background

The TRIM8 gene encodes a protein that participates in various biological processes. TRIM8 variants can lead to early termination of protein translation, which can cause a rare disease called neuro-renal syndrome. This syndrome is characterized by epilepsy, psychomotor retardation, and focal segmental glomerulosclerosis. However, we found that some patients may not present the above typical triad, and the reason may be related to their variant sites.

Case presentation

We report a case of a 6-year-old boy with nephrotic-range proteinuria as the first prominent manifestation of TRIM8 variant. He had stage 3 chronic kidney disease at the time of presentation, specific facial features, and a neurogenic bladder. He had not experienced seizures previously. There were no

SUBMITTER: Li W 

PROVIDER: S-EPMC10105407 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature