Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

Etiological studies have shown genetic disorders to be a major cause of sensorineural
hearing loss, but there are a limited number of comprehensive etiological reports based on …

The stria vascularis (SV) generates the endocochlear potential (EP) in the inner ear and is
necessary for proper hair cell mechanotransduction and hearing. While channels belonging …

Objective: The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common
genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the …

Purpose The feasibility of genetic screening for deafness-causing mutations in newborns
has been reported in several studies. The aim of this study was to investigate the long-term …

Hearing impairments are the most common symptom of congenital defects, and they
generally remain intractable to treatment. Pendred syndrome, the most frequent syndromic …

Objectives: To elucidate the molecular epidemiology of hearing loss in a large number of
Japanese patients analyzed using massively parallel DNA sequencing (MPS) of target …

Importance In the US, most childhood-onset bilateral sensorineural hearing loss is genetic,
with more than 120 genes and thousands of different alleles known. Primary treatments are …

Hearing loss is the most common sensorial deficit in humans and one of the most common
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …

Although there are nearly 100 different causative genes identified for nonsyndromic hearing
loss (NSHL), Sanger sequencing‐based DNA diagnostics usually only analyses three …