SALL2 – Nephrotic Syndrome

Recent targeted exome sequencing studies have identified a novel deleterious variant in SALL2 in a patient presenting with nephrotic range proteinuria and focal segmental glomerulosclerosis (PMID:24130771). Although the study primarily aimed to resolve complex renal phenotypes by interrogating a large panel of kidney disease genes, the detection of an aberrant SALL2 allele in this context suggests a potential, albeit preliminary, link between SALL2 and nephrotic syndrome. The evidence is currently limited by being derived from a single proband without extensive familial segregation analysis.

Genetically, the SALL2 variant was identified in a setting consistent with autosomal dominant transmission, but no additional affected relatives with a segregating mutation were reported (PMID:24130771). Functionally, while SALL2 has been implicated in various developmental and cellular processes in other tissues, there is a lack of direct experimental studies connecting its dysregulation to renal pathology. In summary, the current evidence supports a limited clinical validity for the association between SALL2 and nephrotic syndrome, warranting further investigation.

Key Take‑home: SALL2 is a potential candidate gene in the differential diagnosis of nephrotic syndrome, though its role requires additional genetic and functional validation.

References

• PloS one • 2013 • Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria PMID:24130771

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