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Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.

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Summary

Pathogenic variants in the SALL1 gene are a significant cause of monogenic kidney disease, often presenting with chronic kidney disease and extrarenal features characteristic of Townes-Brocks syndrome.

Keywords:
SALL1Townes-Brocks syndrome (TBS)genetic testingkidney diseasereverse phenotyping

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Area of Science:

  • Genetics
  • Nephrology
  • Rare Diseases

Background:

  • Townes-Brocks syndrome (TBS) is a rare genetic disorder linked to SALL1 variants, typically presenting with anorectal malformations, ear anomalies, and hand/thumb abnormalities.
  • While kidney involvement is known in TBS, its prevalence and spectrum in individuals undergoing genetic testing for kidney disease are not well-characterized.

Purpose of the Study:

  • To determine the incidence of SALL1 variants in patients tested for monogenic kidney disease.
  • To identify and quantify the renal and extrarenal features associated with SALL1 variants in this cohort.

Main Methods:

  • Retrospective analysis of genetic data from a 385-gene panel.
  • Identification of pathogenic or likely pathogenic SALL1 variants.
  • Collection of clinical data including age, features, and disease progression.

Main Results:

  • SALL1 variants were found in 1:1592 patients tested for monogenic kidney disease (22/35,044 samples).
  • 91% of patients with SALL1 variants had chronic kidney disease (CKD); common renal features included renal agenesis/hypoplasia, FSGS, and cysts.
  • Extrarenal features such as hearing loss, ear anomalies, anorectal malformations, and hand/thumb abnormalities were present in a significant proportion of cases.

Conclusions:

  • SALL1 variants are an under-recognized cause of monogenic kidney disease.
  • Genetic testing for SALL1 variants should be considered in individuals with unexplained kidney disease, even with atypical or mild TBS features.