The authors provide a literature review of the genetic basis and clinical features of incomplete partition (IP)-type III. The condition is seen typically in males and is due to mutation in the POU class 3 homeobox 4 (POU3F4) gene which causes X-linked deafness type 2 (DFNX2). The POU3F4 gene is critical for embryonic growth. Mutations can cause severe mixed to sensorineural hearing loss as the gap junction plaques around the supporting cells are disrupted, influencing the vascular patterns and the function of the ion channels in the spiral ligament and impacting the endolymphatic inner ear potential. The authors also discuss imaging features, the surgical challenges during cochlear implantation in this population of patients, such as CSF gusher and electrode misplacement, and future gene therapy via inner ear drug delivery with exosomes for this condition.
Genetics of IP-III
Reviewed by Gauri Mankekar
Research progress on incomplete partition type 3 inner ear malformation.
CONTRIBUTOR
Gauri Mankekar
Department of Otolaryngology-Head Neck Surgery, Louisiana State University Shreveport, Louisiana, USA.
View Full Profile
