Clin Exp Otorhinolaryngol.  2023 Nov;16(4):403-406. 10.21053/ceo.2023.00864.

Genetic Characteristics and Audiological Performance After Cochlear Implantation in Patients With Incomplete Partition Type III

• Jung J
• Lee SA
• Kim UK
• Moon IS
• Gee HY
• Choi JY

• KMID: 2548369
• DOI: http://doi.org/10.21053/ceo.2023.00864

Figure

• 

  Fig. 1. Clinical correlation of the POU3F4 variants. (A) Schematic illustration of the POU3F4 protein with the variants observed in this study (structural variants are not depicted here, and red highlights refer to the novel variants in this study). (B) Auditory performance after cochlear implantation was compared between patients with incomplete partition type III and normal cochlea with GJB2 variants. CAP, categories of auditory performance; Preop, preoperative; Postop, postoperative; NS, not significant. *P<0.05, **P<0.01.

Reference

1. Sennaroglu L, Sarac S, Ergin T. Surgical results of cochlear implantation in malformed cochlea. Otol Neurotol. 2006; Aug. 27(5):615–23.

2. Nance WE, Setleff R, McLeod A, Sweeney A, Cooper C, McConnell F. X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser. 1971; Mar. 7(4):64–9.

3. Corvino V, Apisa P, Malesci R, Laria C, Auletta G, Franze A. X-linked sensorineural hearing loss: a literature review. Curr Genomics. 2018; Aug. 19(5):327–38.

4. Bademci G, Lasisi A, Yariz KO, Montenegro P, Menendez I, Vinueza R, et al. Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations. BMC Med Genet. 2015; Feb. 16:9.

5. de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science. 1995; Feb. 267(5198):685–8.

6. Bae SH, Choi J, Choi JY. Cochlear implants for patients with common cavity deformities and the impact of electrode positioning. Clin Exp Otorhinolaryngol. 2022; Feb. 15(1):77–83.

7. Sennaroglu L, Bajin MD. Incomplete partition type III: a rare and difficult cochlear implant surgical indication. Auris Nasus Larynx. 2018; Feb. 45(1):26–32.

8. Sun J, Sun J. Outcomes of cochlear implantation in patients with incomplete partition type III. Int J Pediatr Otorhinolaryngol. 2020; Apr. 131:109890.

9. Chao X, Xiao Y, Zhang F, Luo J, Wang R, Liu W, et al. Cochlear implantation in a patient with a novel POU3F4 mutation and incomplete partition type-III malformation. Neural Plast. 2020; Sep. 2020:8829587.

10. Alballaa A, Aschendorff A, Arndt S, Hildenbrand T, Becker C, Hassepass F, et al. Incomplete partition type III revisited-long-term results following cochlear implant. HNO. 2020; Jan. 68(Suppl 1):25–32.

11. Jung J, Yoo JE, Choe YH, Park SC, Lee HJ, Lee HJ, et al. Cleaved cochlin sequesters pseudomonas aeruginosa and activates innate immunity in the inner ear. Cell Host Microbe. 2019; Apr. 25(4):513–25.e6.

12. Jung J, Lee JS, Cho KJ, Yu S, Yoon JH, Gee HY, et al. Genetic predisposition to sporadic congenital hearing loss in a pediatric population. Sci Rep. 2017; Apr. 7:45973.

13. Rim JH, Noh B, Koh YI, Joo SY, Oh KS, Kim K, et al. Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation. Hum Genet. 2022; Apr. 141(3-4):915–27.

14. Friedman RA, Bykhovskaya Y, Tu G, Talbot JM, Wilson DF, Parnes LS, et al. Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. Ann Otol Rhinol Laryngol. 1997; Apr. 106(4):320–5.

15. Ban MJ, Kim JM, Kwon TJ, Moon IS. A Case of Cochlear Implantation in Patient with Incomplete Partition Type III Inner Ear Anomaly. Korean J Otorhinolaryngol Head Neck Surg. 2013; Sep. 56(9):594–8.

16. Lee HK, Song MH, Kang M, Lee JT, Kong KA, Choi SJ, et al. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics. 2009; Nov. 39(3):195–201.

17. Song MH, Lee HK, Choi JY, Kim S, Bok J, Kim UK. Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA. Clin Genet. 2010; Dec. 78(6):524–32.

18. Jo HD, Han JH, Lee SM, Choi DH, Lee SY, Choi BY. Genetic load of alternations of transcription factor genes in non-syndromic deafness and the associated clinical phenotypes: experience from two tertiary referral centers. Biomedicines. 2022; Aug. 10(9):2125.

19. Choi BY, An YH, Song JJ, Koo JW, Lee JH, Oh SH, et al. Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III. Laryngoscope. 2016; Mar. 126(3):E123–8.