Prevalence of Mutations in Deafness‐Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China

Abstract

The mutations of GJB2, SLC26A4, and mtDNA12SrRNA are the most common inherited causes of nonsyndromic sensorineural hearing loss (NSHL) in China, yet previous genetic screenings were mainly carried on patients with moderate-to-profound impairment. We aimed to detect the mutation frequencies in NSHL population within a more specified range of severity. Patients with profound NSHL who had undergone cochlear implantation in the Shandong Provincial Hospital (Shandong, China) were recruited. The majority (n = 472) were between 0.7 and 6 years old, and the remaining (n = 63) were between 6 and 70 years old. In total, 115 mutation alleles of the three genes were screened with SNP scan assay. Of the patients, 19.44% (104/535) were found to have GJB2 mutations, and the most common allele was c.235delC, followed by c.299_300delAT and c.109G>A. SLC26A4 mutations were detected in 13.46% patients (72/535), and the most common allele was c.919-2A>G (IVS7-2A>G), followed by c.1174A>T and c.2168A>G. Seven patients (1.31%) carried mutations in mtDNA12SrRNA, with the alleles of m.1555A>G and m.1494C>T. We found the allele frequency of c.109G>A (GJB2) was relatively lower in the profound NSHL population in comparison to the moderate-to-profound ones, and the c.1174A>T (SLC26A4) relatively higher. It suggests those mutations may be connected with the degree of deafness, which needs more observations and analyses to support.

Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population

“…The genetic similarity with the southern parts of China can also be seen in the SLC26A4 mutation. Unlike the northern area of China, in which the prevalence of SLC26A4 mutation has been reported to range from 10 to 13% 28–30 , patients with severe-to-profound hearing from the Guangxi province showed limited prevalence of SLC26A4 variants (2.2%) 31 , similar to our Vietnamese cohort.…”

An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa

“…The SNHL is defined as hearing loss resulting from damage to the inner ear or the auditory nerves that aid in the sound transducing mechanism to the brain (Luo et al, 2017 ). SSNHL is a form of SNHL that characterizes the sudden loss of hearing, usually in one ear and affects an estimated 5-27/100,000 persons per year (Alexander and Harris, 2013 ; Lin et al, 2017 ).…”

Vocalization Frequency as a Prognostic Marker of Language Development Following Early Cochlear Implantation

“…Children and toddlers implanted with CI’s all over the world have vastly increased to 80.000 and over lately, still rising higher. 1,2 In view of this, a considerable number of modern and highly developed elaborate techniques relating to molecular genetic 2,3 examination methods and lately discovered ways of conducting audiometric processes 4-6 were generated thus rendering scanning and prompt observation procedures assessing inherent deafness possible within the very first, short time period of the infant’s life. The universal phenomenon of congenital deafness was lately said to fluctuate between 0,2 and 3 instances occurring in natural birth in industrial parts of the world.…”

“…The qualities of the stimulus differ from their acoustic stimulation counterparts, but they retain the basic essence that governs standard cochlear functioning code. 1 Hearing impairment owing to either conductive or sensorineural causes, when manifested in the middle and/or inner ear (ossicles/ dead regions in the cochlea respectively) 3,5 can be made up for through cochlear implantation. By getting round the weak region and focusing on the auditory nerve, we will produce a subject- to-stimulus-area to which sound energy is conveyed.…”