Analysis of Neuroanatomical Deficits in FOXG1 G216S Mutation in Mice

Authors: Ivy Mon, Jae Lee, Dennis Kogos

SUNY Campus: SUNY Buffalo

Presentation Type: Poster

Location: Old Union Hall

Presentation #: 15

Timeslot: Session B 10:15-11:15 AM

Abstract: FOXG1 Syndrome (FS) is a neurodevelopmental disorder that occurs due to a mutation on the FOXG1 gene. Patients with FS experience impacted motor, cognitive and social abilities and thus, significant decrease in quality of life. Some anatomical landmarks found in FOXG1 patients include microcephaly, corpus callosum agenesis and simple gyral patterns. Clinical symptoms such as movement disorders, epilepsy, and impaired social contact are observed along with the changes in brain structures. Severity of the structural deficits have also been found to be linked to clinical severity. The phenotypic expression of G216S mutation of the Foxg1 gene in mice brain closely mimics the G224S mutation of FOXG1 found in human patients. The objective of this experiment is to identify structures that may be significantly affected by the G216S missense mutation in the mouse brain. Results of this study may give us more insight into clinical manifestations and severity seen in the G224S mutation in human patients. Here, we have found that the structure of the corpus callosum is compromised in mice with G216S mutation in the FOXG1 gene in terms of thickness and length, resulting in poor connectivity between the two hemispheres. Data obtained from sagittal sections will be cross-analyzed to produce a clearer picture of the impacted structures. Further studies will be conducted to explore clinical symptoms such as sleep apnea and social anxiety in G216S mutation mice by utilizing behavioral assays.