Roles of Migratory Neural Crest Cells in CHARGE Syndrome – UROP Spring Symposium 2021

Roles of Migratory Neural Crest Cells in CHARGE Syndrome

Ashley Gorris


Pronouns: she./her

Research Mentor(s): Donna Martin, Professor
Research Mentor School/College/Department: Pediatrics-Genetics, Michigan Medicine
Presentation Date: Thursday, April 22, 2021
Session: Session 4 (2pm-2:50pm)
Breakout Room: Room 2
Presenter: 2

Event Link


CHARGE Syndrome is characterized by a number of congenital abnormalities (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital abnormalities, and Ear abnormalities). The primary cause of CHARGE is mutations of the gene CHD7 (Chromodomain Helicase DNA binding protein 7). One of the main hallmarks of CHARGE is deafness, but the etiology of hearing loss in CHARGE is unknown. Defects in neural crest derived tissue has been linked to other aspects of CHARGE syndrome. Here we look at the connection between CHD7 mutations and their effect on neural crest cell migration in the development of the inner ear. We used a neural crest specific CHD7 knockout mouse line (Wnt1Cre2;Chd7flox/flox) to observe the migration of neural crest cells in tissue sections. We found that CHD7 loss in neural crest cells does not impair their migration to the developing inner ear. Work is ongoing to determine if the development of neural crest-derived glial cells is impaired in the Chd7Gt/+ mouse model of CHARGE syndrome. Collectively, these studies improve our understanding of CHD7 in neural crest development in CHARGE syndrome.

Authors: Ashley Gorris, Elaine Ritter, Donna Martin
Research Method: Library/Archival/Internet Research

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