Brain malformations in a patient with a deletion 2p16.1: A refinement of the phenotype to BCL11A
Original research article by T. Balci et al. (2015).
Read the abstract here.
Previous studies of 15 people with small deletions in the BCL11A gene have identified a set of common features that include intellectual disability, developmental delay, and small head size. People with the deletions also have differences in their facial features, such as narrow, wide-set eyes, a broad top of the nose), a flat and elongated groove between the nose and top lip, and large ears.
This article presents a case study of a 3-year-old diagnosed with developmental delay and differences in facial features (prominent forehead, wide-set eyes, an indented nasal bridge, a small mouth and chin, and a thin upper lip). Genetic testing identified a deletion of the 2p16.1 region that includes the BCL11A gene. This deletion was not found in either parent.
The researchers conclude that in addition to being associated with intellectual disability, developmental delay, and autism spectrum disorder, changes to the BCL11A gene may contribute to differences in the growth and development of the brain. These differences may include underdevelopment of brain structures such as the corpus callosum (which connects the two halves of the brain) and the cortical gyri (the pattern of how the brain structure is folded).