Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.

ABSTRACT:

Background

To investigate the functional characteristics of heterozygous variants in the SALL1 gene in two children with Townes-Brocks syndrome (TBS), as well as the underlying mechanisms leading to chronic kidney disease.

Methods

We retrospectively analyzed the clinical manifestations, laboratory findings, and genetic backgrounds of two TBS patients admitted to our hospital presenting with chronic kidney disease stage 2 and focal segmental glomerulosclerosis (FSGS). The genetic function was investigated through cultured cells transfected with variants. The Sall1 protein expression level was detected by western blotting. Immunofluorescence was also employed to detect the subcellular localization of SALL1.

Results

Novel heterozygous genetic variations (c.3175 C > T and

SUBMITTER: Liang R 

PROVIDER: S-EPMC11796162 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature