Background and Aim. ROHHADNET (rapid‐onset obesity with hypoventilation,
hypothalamic, autonomic dysregulation, neuroendocrine tumor) syndrome is a rare disease …

While cochlear implantation (CI) technology has greatly improved over the past 40 years,
one aspect of CI that continues to pose difficulties is the variability of outcomes due to …

Outer hair cell (OHC) degeneration is a major cause of progressive hearing loss and
presbycusis. Despite the high prevalence of these disorders, targeted therapy is currently …

Background MYO15A variants are responsible for human non-syndromic autosomal
recessive deafness (DFNB3). The majority of MYO15A variants are associated with a …

Importance A genetic diagnosis can help elucidate the prognosis of hearing loss, thus
significantly affecting management. Previous studies on diagnostic yield of hearing loss …

Intracellular accumulation of mutant proteins causes proteinopathies, which lack targeted
therapies. Autosomal dominant hearing loss (DFNA67) is caused by frameshift mutations in …

Objective To describe the leukodystrophy caused by pathogenic variants in LARS2 and
KARS, encoding mitochondrial leucyl transfer RNA (tRNA) synthase and mitochondrial and …

Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are
etiologically linked to a type of nonsyndromic hearing loss, deafness nonsyndromic …

Ski-slope hearing loss (HL), which refers to increased auditory threshold at high
frequencies, is common in adults. However, genetic contributions to this post-lingual HL …

Background: The vestibular phenotypes of patients with genetic hearing loss are poorly
understood. Methods: we performed genetic testing including exome sequencing and …