title: Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.
abstract: A 14-year-old African-American boy had chronic renal failure and Townes-Brocks syndrome (TBS). There were no affected family members. Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. Renal and urological anomalies in TBS include renal hypoplasia, renal dysplasia, unilateral renal agenesis, horseshoe kidney, posterior urethral valves, uretero-vesical reflux, and meatal stenosis. TBS is caused by a dominantly inherited defect in the gene encoding the SALL1 putative transcription factor, a protein possibly required for urological, renal, limb, ear, brain, and liver development. This patient had a novel mutation in this gene. The extent of renal involvement in patients with TBS should be evaluated for optimum treatment and prediction of prognosis.
authors.affiliation: Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA.
authors.forename: A
authors.initials: A
authors.lastname: Salerno
authors.forename: J
authors.initials: J
authors.lastname: Kohlhase
authors.forename: B S
authors.initials: BS
authors.lastname: Kaplan
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D001006:Anus, Imperforate / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000502:physiology*; D011859:Radiography; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C104146:SALL1 protein, human; D014157:Transcription Factors; D004247:DNA