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Review
.2023 Jun 12;11(6):1695.
doi: 10.3390/biomedicines11061695.

Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review

Affiliations
Review

Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review

Emanuele Bernardinelli et al. Biomedicines..

Abstract

X-linked deafness (DFNX) is estimated to account for up to 2% of cases of hereditary hearing loss and occurs in both syndromic and non-syndromic forms.POU3F4 is the gene most commonly associated with X-linked deafness (DFNX2, DFN3) and accounts for about 50% of the cases of X-linked non-syndromic hearing loss. This gene codes for a transcription factor of the POU family that plays a major role in the development of the middle and inner ear. The clinical features of POU3F4-related hearing loss include a pathognomonic malformation of the inner ear defined as incomplete partition of the cochlea type 3 (IP-III). Often, a perilymphatic gusher is observed upon stapedectomy during surgery, possibly as a consequence of an incomplete separation of the cochlea from the internal auditory canal. Here we present an overview of the pathogenic gene variants ofPOU3F4 reported in the literature and discuss the associated clinical features, including hearing loss combined with additional phenotypes such as cognitive and motor developmental delays. Research on the transcriptional targets of POU3F4 in the ear and brain is in its early stages and is expected to greatly advance our understanding of the pathophysiology of POU3F4-linked hearing loss.

Keywords: POU3F4; X-linked deafness; gene variants; hearing loss; transcription factor.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Radiological appearance of a normal cochlea (A,B) in comparison to a case of incomplete partition type III (C,D). All images represent axial planes of a left temporal bone. (A) and (C) are CT-scans; (B) and (D) are MRI T2-weighed axial scans. The cochlear base (*) can be clearly identified in (A) and (B) (normal cochlea), whereas it is missing in (C) and (D) (IP-III cochlea).
Figure 2
Figure 2
Graphic representation ofPOU3F4 gene and protein structure. (A) The 8500-bp-longPOU3F4 gene (NG_009936.2) includes one single coding exon spanning g.5001 to g.6507. The coding sequence includes the nucleotides from c.5065 to c.6150. (B) Schematic representation of POU3F4 protein sequence. NLS, nuclear localization sequence; POUH, POU homeodomain DNA-binding domain; POUS, POU-specific DNA-binding domain. The numbers below the graphic indicate the starting and ending points of the bipartite DNA-binding domain. p. indicates the amino acid position (NP_000298.3), c. the nucleotide position (NM_000307.5). (C) Predicted POU3F4 DNA-binding consensus sequence (https://jaspar.genereg.net/matrix/MA0789.1/, accessed on 23 May 2023).
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References

    1. Koffler T., Ushakov K., Avraham K.B. Genetics of Hearing Loss: Syndromic. Otolaryngol. Clin. N. Am. 2015;48:1041–1061. doi: 10.1016/j.otc.2015.07.007. - DOI - PMC - PubMed
    1. Pandya A. Genetic hearing loss: The journey of discovery to destination—How close are we to therapy? Mol. Genet. Genom. Med. 2016;4:583–587. doi: 10.1002/mgg3.260. - DOI - PMC - PubMed
    1. Corvino V., Apisa P., Malesci R., Laria C., Auletta G., Franze A. X-Linked Sensorineural Hearing Loss: A Literature Review. Curr. Genom. 2018;19:327–338. doi: 10.2174/1389202919666171218163046. - DOI - PMC - PubMed
    1. Del Castillo I., Morín M., Domínguez-Ruiz M., Moreno-Pelayo M.A. Genetic etiology of non-syndromic hearing loss in Europe. Hum. Genet. 2022;141:683–696. doi: 10.1007/s00439-021-02425-6. - DOI - PubMed
    1. Barker D.F., Hostikka S.L., Zhou J., Chow L.T., Oliphant A.R., Gerken S.C., Gregory M.C., Skolnick M.H., Atkin C.L., Tryggvason K. Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome. Science. 1990;248:1224–1227. doi: 10.1126/science.2349482. - DOI - PubMed

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