Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene

A 14-year-old African-American boy had chronic renal failure and Townes-Bro cks syndrome (TBS). There were no affected family members. Features were im perforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, ro cker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss , hypospadias, bilateral renal hypoplasia, and progressive chronic renal fa ilure. Renal and urological anomalies in TBS include renal hypoplasia, rena l dysplasia, unilateral renal agenesis, horseshoe kidney, posterior urethra l valves, uretero-vesical reflux, and meatal stenosis. TBS is caused by a d ominantly inherited defect in the gene encoding the SALL1 putative transcri ption factor, a protein possibly required for urological, renal, limb, ear, brain, and liver development. This patient had a novel mutation in this ge ne. The extent of renal involvement in patients with TBS should be evaluate d for optimum treatment and prediction of prognosis.