AUTHOR=Li Xinxin , Shi Lin , Wang Liang 

TITLE=A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness

JOURNAL=Frontiers in Synaptic Neuroscience

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/synaptic-neuroscience/articles/10.3389/fnsyn.2022.1101587

DOI=10.3389/fnsyn.2022.1101587

ISSN=1663-3563

ABSTRACT=<p>The GAIP interacting protein c terminus (<italic>GIPC</italic>) genes encode a small family of proteins characterized by centrally located PDZ domains. <italic>GIPC3</italic> encodes a 312 amino acid protein. Variants of human <italic>GIPC3</italic> are associated with non-syndromic hearing loss. <italic>GIPC3</italic> is one of over a hundred different genes with variants causing human deafness. Screening for variants of <italic>GIPC3</italic> is essential for early detection of hearing loss in children and eventually treatment of deafness. Accordingly, this paper assesses the status of research developments on the role of <italic>GIPC3</italic> in hereditary deafness and the effects of pathogenic variants on the auditory system.</p>