SNP Shot: Genomic Insights

Rubinstein-Taybi syndrome is a genetic disorder defined by several key characteristics: short height, intellectual disability ranging from moderate to severe, unique facial characteristics, and wide thumbs and big toes. Other possible features include problems with the eyes, heart, and kidneys, as well as dental issues and a tendency toward obesity. The specific combination and severity of these signs and symptoms differ from person to person. Individuals with Rubinstein-Taybi syndrome also have a higher chance of developing certain non-cancerous tumors of the brain and skin.

Inheritance:

Rubinstein-Taybi syndrome typically follows an autosomal dominant inheritance pattern. This means that having only one copy of the mutated gene in each cell is enough to cause the condition. In the majority of cases, the syndrome arises from a new gene mutation. Consequently, most affected individuals are the first in their family to have the disorder.