SNP Shot: Genomic Insights

Townes-Brocks syndrome is a genetic disorder impacting multiple areas of the body. Its hallmark characteristics include a malformed anus (imperforate anus), unusual ear shapes, and hand abnormalities, particularly affecting the thumbs. Individuals with this syndrome typically present with at least two of these three primary features.

Besides the main features, Townes-Brocks syndrome can also involve kidney problems, ranging from mild to severe hearing loss, eye defects, heart conditions, foot deformities, and genital malformations. The presence and severity of these symptoms differ significantly among those affected, even within the same family. Approximately 10% of individuals with Townes-Brocks syndrome experience mild intellectual disability or learning difficulties.

Inheritance:

The inheritance pattern of this condition is autosomal dominant. This means that only one copy of the mutated gene in each cell is enough to cause the syndrome.