Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach

Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder

“…Furthermore, this kit would help to screen potential hotspot/founder variants that manifest specific auditory phenotypes. Very recently, we confirmed that a high proportion of Mendelian genetic contribution was due particularly to the p.Gln74* MPZL2 variant amongst patients with pediatric-onset mild-to-moderate SNHL [18]. The COCH variants are suggested to be a frequent cause of progressive cochleovestibular dysfunction in Koreans eventually requiring cochlear implantation [17].…”

“…The implementation of the U-TOP™ HL Genotyping Kit Ver2 is not necessarily limited to ANSD. Indeed, the development of this new kit was based on the recent identification of several prevalent variants exerting a potential hotspot/founder effect or manifest specific auditory phenotypes in the Korean hearing-impaired population [ 15 , 16 , 17 , 18 , 19 , 20 ]. This new kit was designed to detect as many recurring and important deafness-causing variants as possible in conjunction with the previous version, U-TOP™ HL Genotyping Kit Ver1.…”

“…This issue implicates some major variants of other deafness genes as well. Indeed, several prevalent variants that exert a potential hotspot/founder effect or manifest specific auditory phenotypes have been recently identified in the Korean population with varying degrees of SNHL [ 16 , 17 , 18 , 19 , 20 ].…”

Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation

“…Various genetic studies on HL using panel sequencing and/ or ES previously evaluated clinical efficiency according to ethnicity, age of onset, or severity (Kim et al 2020;Shearer et al 2014;Yuan et al 2020). However, few studies have investigated the diagnostic rates of genetic testing in relation to audiogram patterns (Song et al 2020), which is the first-line diagnostic tool in HL evaluation.…”

Genetic Information and Precision Medicine in Hearing Loss

“…HL is caused by genetic and environmental factors that affect auditory pathways, such as congenital cytomegalovirus and ototoxicity caused by antibiotics [2]. Recently, with the decline in the prevalence of infectious diseases and the prevention of druginduced HL, the proportion of patients with genetic HL has correspondingly increased, and causative genetic variants have been found both for congenital mild or moderate HL and for severe or profound HL [3,4]. In addition, congenital recessive deafness gene variants are not uncommon in patients with sporadic HL, which is not evident at the beginning of birth but becomes apparent during childhood, adolescence, or adulthood, is not uncommon to report congenital recessive deafness gene variants [5].…”