Unraveling haplotype errors in the DFNA33 locus.

Genetic heterogeneity makes it difficult to identify the causal genes for hearing loss. Studies from previous decades have mapped numerous genetic loci, providing critical supporting evidence for gene discovery studies. Despite widespread sequencing accessibility, many historically mapped loci remain without a causal gene.

TCERG1L allelic variation is associated with cisplatin-induced hearing loss in childhood cancer, a PanCareLIFE study.

In children with cancer, the heterogeneity in ototoxicity occurrence after similar treatment suggests a role for genetic susceptibility. Using a genome-wide association study (GWAS) approach, we identified a genetic variant in TCERG1L (rs893507) to be associated with hearing loss in 390 non-cranial irradiated, cisplatin-treated children with cancer. These results were replicated in two independent, similarly treated cohorts (n = 192 and 188, respectively) (combined cohort: P = 5.

Drug-induced ototoxicity: Mechanisms, Pharmacogenetics, and protective strategies.

Drug ototoxicity limits the quality of life of patients after treatment, having serious consequences, especially for psychosocial development of children. Although the ototoxicity of many drugs resolves after treatment discontinuation, the use of platinum derivatives and aminoglycosides is associated with permanent hearing loss. In this review, we have listed ototoxic drugs and the mechanisms by which they damage the ears.

Human OCT2 variant c.808G>T confers protection effect against cisplatin-induced ototoxicity.

Aim: Assuming that genetic variants of the SLC22A2 and SLC31A1 transporter affect patients' susceptibility to cisplatin-induced ototoxicity, we compared the distribution of 11 SLC22A2 variants and the SLC31A1 variant rs10981694 between patients with and without cisplatin-induced ototoxicity.

Patients & Methods: Genotyping was performed in 64 pediatric patients and significant findings were re-evaluated in 66 adults.

Results: The SLC22A2 polymorphism rs316019 (c.

Spontaneous otoacoustic emission enhancement in children with reduced speech-in-noise intelligibility.

Reduced speech-in-noise intelligibility is one of the main difficulties experienced by children with auditory processing disorder (APD). Previous studies have established a relationship between the function of the medial olivocochlear system (MOCS) and reduced inhibition of otoacoustic emissions (OAE) in children with APD. This study measured spontaneous OAE (SOAE) in 27 children with reduced speech-in-noise intelligibility, and those of a control group matched by gender and age.

Melatonin is a useful alternative to sedation in children undergoing brainstem audiometry with an age dependent success rate--a field report of 250 investigations.

Though brainstem audiometry is one of the most important investigations in pediatric audiology, it often necessitates sedation or general anaesthetics, especially in newborns and infants. Melatonin, inducing natural sleep without the risks of sedation, has been successfully used to induce sleep prior to EEG investigations. 250 children (142 male, 108 female) with suspected hearing loss underwent ABR (auditory brainstem responses) tests in melatonin-induced sleep.