CHOP Neurologist Discusses Gene Mutation Found in Children of Puerto Rican Descent on Univision

Xilma R. Ortiz-Gonzalez, MD, PhD For several years, Xilma Ortiz-Gonzalez, MD, PhD, a pediatric neurologist in the Division of Neurology at CHOP, has studied what is known as the Boricua mutation, which occurs in the gene TBCK and predominantly affects children of Pueto Rican descent. The mutation causes a variety of severe symptoms, including intellectual disability, epilepsy, low muscle tone, and progressive dysfunction in both the central and peripheral nervous systems. By adolescence, the patients experience chronic respiratory failure caused by their progressive neuromuscular weakness.

To better reach people in Puerto Rico who may have children affected by this mutation, Dr. Ortiz-Gonzalez was recently interviewed by Despierta América, which airs on Univision to a Spanish-speaking audience. In the interview, she discusses how this mutation has affected a two-year-old Puerto Rican boy.

Click here to watch the interview.