Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS
Two patients with Townes-Brocks syndrome (TBS) harboring novel variants presented atypical phenotypes, characterized primarily by significant and rapidly progressing renal involvement. Rare renal biopsy pathology revealed the presence of focal segmental glomerulosclerosis (FSGS) in both cases. Experimental validation demonstrated that both variants led to alterations in the molecular size, expression level, and localization of the Sall1 protein, suggesting that these SALL1 gene variants might contribute to FSGS by impacting podocyte function.
Authors
- Ruochen Che (ORCID: https://orcid.org/0000-0003-3481-9930)
- Ying Chen (ORCID: https://orcid.org/0000-0002-4780-4642)
- Sanlong Zhao
- Bixia Zheng (ORCID: https://orcid.org/0000-0003-3457-6545)
- Wei Zhou (ORCID: https://orcid.org/0000-0001-7719-0859)
- Chunli Wang (ORCID: https://orcid.org/0000-0001-8891-1797)
- Rong Liang (ORCID: https://orcid.org/0000-0002-6419-9464)
Institutions
- Nanjing Children's Hospital (CN)
- Second Affiliated Hospital of Nanjing Medical University (CN)
- Nanjing Medical University (CN)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-02-05
- DOI
- https://doi.org/10.1186/s12887-024-05326-5
- Citations
- 1
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Natural Science Foundation of China