Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Jan 6:14:1101587.
doi: 10.3389/fnsyn.2022.1101587. eCollection 2022.

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

Xinxin Li  1 , Lin Shi  1 , Liang Wang  2
Affiliations
Review

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

Xinxin Li et al. Front Synaptic Neurosci. .

Abstract

The GAIP interacting protein c terminus (GIPC) genes encode a small family of proteins characterized by centrally located PDZ domains. GIPC3 encodes a 312 amino acid protein. Variants of human GIPC3 are associated with non-syndromic hearing loss. GIPC3 is one of over a hundred different genes with variants causing human deafness. Screening for variants of GIPC3 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 GIPC3 in hereditary deafness and the effects of pathogenic variants on the auditory system.

Keywords: GIPC3; auditory system; gene mutations; hereditary deafness; organ of Corti.

PubMed Disclaimer

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Schematic diagram of the mechanisms of hearing loss and acoustic seizures triggered by GIPC3 mutations.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Ain Q., Nazli S., Riazuddin S., Jaleel A. U., Riazuddin S. A., Zafar A. U., et al. (2007). The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. Hum. Genet. 122 445–450. 10.1007/s00439-007-0418-z - DOI - PubMed
    1. Ammar-Khodja F., Bonnet C., Dahmani M., Ouhab S., Lefevre G. M., Ibrahim H., et al. (2015). Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing. Mol. Genet. Genomic Med. 3 189–196. 10.1002/mgg3.131 - DOI - PMC - PubMed
    1. Asgharzade S., Tabatabaiefar M. A., Mohammadi-Asl J., Chaleshtori M. H. (2018). A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing. Int. J. Pediatr. Otorhinolaryngol. 108 8–11. 10.1016/j.ijporl.2018.01.006 - DOI - PubMed
    1. Avraham K. B., Hasson T., Steel K. P., Kingsley D. M., Russell L. B., Mooseker M. S., et al. (1995). The mouse Snell’s waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nat. Genet. 11 369–375. 10.1038/ng1295-369 - DOI - PubMed
    1. Azaiez H., Booth K. T., Ephraim S. S., Crone B., Black-Ziegelbein E. A., Marini R. J., et al. (2018). Genomic landscape and mutational signatures of deafness-associated genes. Am. J. Hum. Genet. 103 484–497. 10.1016/j.ajhg.2018.08.006 - DOI - PMC - PubMed

LinkOut - more resources