Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

ABSTRACT: Townes-Brocks syndrome (TBS, MIM#107480) is an autosomal dominant disorder linked to SALL1 alterations and characterized by a clinical triad (anorectal, thumb, and external-ear malformations), along with variable features. 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 SALL1 (likely) pathogenic variant identified in our laboratory or through collaborations, and reviewed the 207 SALL1 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 in

SUBMITTER: Leduc F 

PROVIDER: S-EPMC12583617 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature