In a recent study, researchers at Baylor College of Medicine and collaborating institutions provided a rare genetic diagnosis in a child with Lennox-Gastaut syndrome, a type of developmental epileptic encephalopathy (DEE) associated with a severe, complex form of epilepsy and developmental delay.
In the study, the team reported the case of a young child with DEE whose previous genomic studies did not provide a genetic diagnosis. Researchers found that a highly complex rearrangement of fragments from certain chromosomes altered the typical organization of genes, leading to a rare condition known as 5q14.3 microdeletion syndrome.
“The child and the family came to Texas Children’s for answers and our team took a closer look at their genome,” said co-author Dr. Hsiao-Tuan Chao. “We reevaluated the child’s genomic condition and found a highly complex reshuffling of chromosomes 3 and 5 resulting in 5q14.3 microdeletion syndrome.”
