Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects

Winn S. Surka, Juergen Kohlhase, Cindy E. Neunert, Daniel S. Schneider, Virginia K. Proud

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


Townes-Brocks syndrome (TBS) is a condition with imperforate anus, hand anomalies, and ear malformations with sensorineural hearing loss. Many cases are sporadic. Within and between families, the phenotype displays striking variability. Recently, the disease-causing gene for TBS was identified as SALL1, a zinc finger transcription factor. Here, we report a three-generation family with seven affected individuals who have a novel SALL1 mutation. Unique cardiac anomalies seen in this family include lethal truncus arteriosus in one patient and a lethal complicated defect, including pulmonary valve atresia, in a second patient. These severe cardiac anomalies have not previously been reported in a familial case of TBS. This family and a review of the literature indicate that cardiac evaluation is warranted in all individuals with this disorder. In addition, hypoplastic thumbs were seen in two individuals in this family and should, therefore, be considered a true feature of TBS.

Original languageEnglish (US)
Pages (from-to)250-257
Number of pages8
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - Aug 15 2001


  • Cranial nerve palsy
  • Hypoplastic thumbs
  • Lethal cardiac anomaly
  • Mental retardation
  • Pulmonaryvalve atresia
  • SALL1 mutation
  • Townes-Brocks syndrome
  • Truncus arteriosus

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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