A number of ion channels and transporters are expressed in both the inner ear and kidney. In the inner ear, K(+) cycling and endolymphatic K(+), Na(+), Ca(2+), and pH homeostasis are critical for normal organ function. Ion channels and transporters involved in K(+) cycling include K(+) channels, Na(+)-2Cl(-)-K(+) cotransporter, Na(+)/K(+)-ATPase, Cl(-) channels, connexins, and K(+)/Cl(-) cotran...

The aim was to study the frequencies of common deafness-related mutations and their contribution to hearing loss in different regions of Inner Mongolia. A total of 738 deaf children were recruited from five different ethnic groups of Inner Mongolia, including Han Chinese (n=486), Mongolian (n=216), Manchurian (n=24), Hui (n=6) and Daur (n=6). Nine common mutations in four genes (GJB2, SLC26A4, ...

INTRODUCTION Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin (encoded by SLC26A4), which transports chloride and iodide in the inner ear and thyroid respectively. Recently, pendrin has also been identified in the kidneys, where it is found in the apical plasma membrane of non-α-type...

In a recent genome-wide association study, the SLC26A4 gene rs2072064 polymorphism was found to be associated with late-onset Alzheimer's disease in Caucasians. Here, we investigated this association in a large Northern Han Chinese cohort consisting of 599 sporadic late-onset Alzheimer's disease patients and 598 healthy controls matched for sex and age in a Northern Han Chinese population from ...

The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hear...

Hearing loss is one of the most common sensorineural disorder. More than half of congenital bilateral profound deafness cases have been estimated to be attributed to genetic cause. Identification of genetic cause can provide valuable information. We developed new diagnostic strategy combining phenotype-driven candidate gene approach and targeted exome sequencing to find out the causative mutati...

OBJECTIVES/HYPOTHESIS To explore the genetic characteristics of children with cochlear implants (CIs) and to correlate the auditory performance after implantation to the genetic diagnosis of children with CIs. STUDY DESIGN Prospective cohort study. METHODS Mutations of four common deafness-associated genes, GJB2, SLC26A4, the mitochondrial 12S rRNA gene, and OTOF, were screened in 743 unrel...

CONTEXT Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. OBJECTIVE Our objective was to evaluate the contribu...