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Renal failure and deafness can occur at any age, making follow-up essential. Some genotype-phenotype correlations have been suggested but data are limited. We collected clinical and molecular data from 49 patients with a\n                    <jats:italic>SALL1<\/jats:italic>\n                    (likely) pathogenic variant identified in our laboratory or through collaborations, and reviewed the 207\n                    <jats:italic>SALL1<\/jats:italic>\n                    related-TBS patients previously reported in the literature. We performed statistical analysis to study genotype-phenotype correlations based notably on the variant position in relation to the glutamine-rich region. In our series, 25% of individuals presented with the clinical triad compared to 49.7% in the literature. The deafness frequency was similar (65%). Renal failure was diagnosed in 39.6% of our patients compared to 29.3% in the literature. Developmental delay or intellectual disability affected 9% of patients. Of the 22\n                    <jats:italic>SALL1<\/jats:italic>\n                    variants in our series, 35% were located upstream of the glutamine-rich region, compared to 6.5% in the literature. Statistical analysis was performed on all patients, of which 26 and 200 carried a variant upstream and downstream of the glutamine-rich region, respectively. A significant increase in deafness, dysplastic ear, and thumb malformations and a significant decrease in renal failure were observed in the individuals carrying a variant located downstream of the region, but the patients were significantly younger. Future studies should aim to elucidate the complex pathophysiological mechanisms and prognosis of TBS, functionally and prospectively.\n                  <\/jats:p>","DOI":"10.1038\/s41431-025-01855-4","type":"journal-article","created":{"date-parts":[[2025,5,10]],"date-time":"2025-05-10T07:49:01Z","timestamp":1746863341000},"page":"1442-1450","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the 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