Townes-Brocks syndrome with adult renal impairment in a Chinese family: A case report.

ABSTRACT:

Background

Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus, dysplastic ears, and thumb malformations. Heterozygous variants of SALL1 are responsible for this syndrome. Renal structural abnormalities and functional impairments are often reported in TBS patients.

Case summary

We report a case of TBS in a Chinese family. The index patients showed obvious renal atrophy and renal failure. TBS was suggested after a physical examination and pedigree analysis. Whole exome sequencing revealed a heterozygous variant of SALL1. The variant (NM_001127892 c.1289_c.1290 insC) led to a read-frame shift of the encoded protein, which was confirmed by Sanger sequencing. The variant cosegregated with the pheno

SUBMITTER: Wu J 

PROVIDER: S-EPMC10450384 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature