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

Abstract

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.

• Authors: W S Surka, J Kohlhase, C E Neunert, D S Schneider, V K Proud
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 102 Issue 3 Pg. 250-7 (Aug 15 2001) ISSN: 0148-7299 [Print] United States
• PMID: 11484202 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 Wiley-Liss, Inc.

Chemical References

• SALL1 protein, human
• Transcription Factors
• DNA

Topics

• Abnormalities, Multiple (genetics, pathology)
• Anus, Imperforate (pathology)
• Base Sequence
• DNA (chemistry, genetics)
• DNA Mutational Analysis
• Ear (abnormalities)
• Family Health
• Female
• Hand Deformities, Congenital (pathology)
• Hearing Loss, Sensorineural (pathology)
• Heart Defects, Congenital (pathology)
• Humans
• Male
• Mutation
• Pedigree
• Syndrome
• Transcription Factors (genetics)