Published online Aug 16, 2023. doi: 10.12998/wjcc.v11.i23.5567
Peer-review started: May 4, 2023
First decision: June 12, 2023
Revised: June 28, 2023
Accepted: July 27, 2023
Article in press: July 27, 2023
Published online: August 16, 2023
Processing time: 103 Days and 23.6 Hours
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.
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 phenotype among affected members.
A novel variant in SALL1 gene may be the molecular pathogenic basis of this disorder.
Core Tip: Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, which is caused by the mutations of SALL1. We report a case of TBS with renal impairment in a Chinese family. TBS was suspected and a heterozygous variant of SALL1 was revealed by whole exome sequencing. The variant led to a read-frame shift of the encoded protein. The variant co-segregated with the phenotype among affected members, which suggested that the variant of SALL1 might be the molecular pathogenic basis of this disorder.