Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

BMC Med Genet. 2017 Nov 6;18(1):125. doi: 10.1186/s12881-017-0483-7.

Abstract

Background: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes.

Case presentation: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect. Genetic analysis revealed a SALL1 nonsense mutation. The case is discussed in the context of the current literature.

Conclusions: Because of the variability in TBS clinical presentation, genetic analysis is key to the differential diagnosis of TBS relative to phenotypically similar syndromes.

Keywords: Case report; Pediatric; Sall1 mutation; Townes-Brock syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Anal Canal / abnormalities
  • Anus, Imperforate / diagnosis
  • Anus, Imperforate / genetics*
  • Brazil
  • Child, Preschool
  • Codon, Nonsense*
  • Diagnosis, Differential
  • Esophagus / abnormalities
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Heart Defects, Congenital / diagnosis
  • Humans
  • Kidney / abnormalities
  • Limb Deformities, Congenital / diagnosis
  • Male
  • Phenotype
  • Spine / abnormalities
  • Thumb / abnormalities*
  • Trachea / abnormalities
  • Transcription Factors / genetics*

Substances

  • Codon, Nonsense
  • SALL1 protein, human
  • Transcription Factors

Supplementary concepts

  • Townes-Brocks syndrome
  • VACTERL association