Townes-Brocks Syndrome Analysis

Townes-Brocks syndrome is an autosomal dominant inheritance syndrome that is caused by mutations in SALL1, which is located on 16q12.1 and whose gene product is a zinc finger protein that acts as a transcription factor gene (Kohlhase 2016). This syndrome is often caused by a variety of mutations such as nonsense, frame-shift, deletions, duplications and insertions. More severe cases have been related to a dominant negative or positive effect of a truncated protein (Stevens and May 2016). The prevalence is estimated to be about 1:250,000 (Kohlhase 2016). This syndrome can be caused by de novo pathogenic variants, which is the case about 50% of the time. If a parent has Townes-Brocks syndrome that is specifically caused by a pathogenic variant of SALL1, then their child has a 50% chance of also inheriting the syndrome (Kohlhase 2016).
A common craniofacial manifestation of this disease is hemifacial microsomia, which is identified as a condition in which the lower half of one of the sides of the face is not developed fully and therefore does not grow properly. Another craniofacial manifestation that was found to be associated with Townes-Brock syndrome in a case study was a second branchial cleft anomaly (Alyono et al 2014). Many people diagnosed with this syndrome are on a high calorie diet, which increases their risk for caries (Schulte 2016). The imperforated anus is often treated immediately through surgical procedures and surgery is also used for severe hand