Genetic background of candidates for EAS (Electric-Acoustic Stimulation)

Abstract

There is a certain number of patients with so-called ski-slope hearing loss, in which there is good hearing for lower frequencies in spite of little/no hearing in high frequencies. EAS (electric-acoustic stimulation) has recently been introduced for such patients with residual hearing at lower frequencies. Ski-slope hearing loss can have either a progressive nature or can be rather stable; therefore, decisions regarding timing of surgery are sometimes hampered. One advantage of genetic testing is that the possible prognosis for hearing, i.e. progressive or not, can be predicted for individual patients. The present study was performed to estimate the frequency of ski-slope hearing loss and investigate the genetic background of candidates for EAS. Using a 2587 subject DNA database of sensorineural hearing loss patients, 1) frequency of patients with ski-slope hearing loss, 2) their clinical features including inheritance mode, onset ages, and progression, and 3) involvement of four common genes with mutations in Japanese hearing loss patients, were evaluated. One hundred and fifty-one out of 2587 subjects fulfilled the audiological criteria for EAS. The frequency of patients possibly meeting the criteria for EAS was estimated to be 9.1% by restriction to probands only (139/1520). Various inheritance modes and onset ages were noted, with earlier onset in the patients with sporadic/recessive inheritance mode. Progressiveness was recognized in 56% of the patients. Genetic analysis identified mutations in 26.6% of the patients, including the mitochondrial 1555A>G mutation, and mutations in SLC26A4, CDH23, and GJB2 genes, suggesting that at the least, these four genes may be involved in a certain group of patients, but also leaving possible genetic causes in the majority of the patients undetermined. As most of the patients showed a progressive nature in their hearing, genetic testing adds important additional information for candidates for EAS.

Key words::

• ski-slope hearing loss
• high frequency hearing loss
• partial deafness
• cochlear implantation

Acknowledgements

We thank the participants of the Deafness Gene Study Consortium. We also thank A. C. Apple-Mathews for help in preparing the manuscript. This work was supported by the Ministry of Health and Welfare, Japan, and a grant-in-aid for scientific research from the Ministry of Education, Science and Culture of Japan.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.