High-throughput sequencing is changing the face of genetic diagnosis and counseling. While in the past, it would take on average 1 to 5 years to identify a mutation leading to deafness, today, the genetic basis for deafness can be determined within months in a child or adult with inherited hearing loss. Obstacles and challenges still remain, but the field is changing at a dramatic rate, making ...

taken into the supporting cells, then diffuses through two syncytial networks back to the marginal cells of the stria vascularis, and is pumped by marginal cells to the Jeffrey R. Holt and David P. Corey* Howard Hughes Medical Institute and Department of Neurobiology endolymph. With such a complex and regulated flux of Harvard Medical School and K, it should perhaps come as no surprise that fiv...

OBJECTIVE Screening genes in patients suffering clinically sporadic deafness, using DNA microarray, and evaluating the application value of the clinical detection. PATIENTS AND METHODS DNA extracted from patients' venous blood was amplified by PCR, and hybridization was carried out in a myriad class clean room. Nine mutation sites of four deaf genes commonly seen in Chinese people were tested...

BACKGROUND & OBJECTIVES Hearing impairment is a common and heterogeneous sensory disorder in humans. Among about 90 genes, which are known to be associated with hearing impairment, mutations in the GJB2 (gap junction protein beta 2) gene are the most prevalent in individuals with hereditary hearing loss. Contribution of the other deafness-causing genes is relatively poorly understood. Here, we ...

Hearing loss and meningitis were correlate in some aspects. Hearing loss is the situation that can be shown in cochlear or retrocochlear defects. Cochlear hearing loss is caused by inner or outer hair cell damage (however cochlear hearing loss has another causes, such as defect of arterial spiral ganglion, basilar and tectorial membrane) and retrocochlear hearing loss has neural origin and meni...

HYPOTHESIS Focal sclerosis of one or more semicircular canals on computed tomographic (CT) scans and a corresponding signal loss on magnetic resonance (MR) imaging are radiologic lesions that are linked to patients who are suffering from advanced otovestibular impairment caused by hereditary DFNA9 hearing loss. BACKGROUND DFNA9 is a hereditary hearing loss that is characterized by late-onset ...

Mutations of the unconventional myosins genes encoding myosin VI, myosin VIIA and myosin XV cause hearing loss and thus these motor proteins perform fundamental functions in the auditory system. A null mutation in myosin VI in the congenitally deaf Snell's waltzer mice (Myo6(sv)) results in fusion of stereocilia and subsequent progressive loss of hair cells, beginning soon after birth, thus rei...