Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in the TMC1 gene as the cause of recessively inherited sensorineural hearing loss by using whole-exome...

It is estimated that about 1 in 500 children are born with a significant hearing loss. Non-syndromic recessive hearing loss (NSRHL) represents a major aetiologic factor in childhood hearing loss since it accounts for approximately 40% of all cases. Many of these genetic forms of hearing loss are indistinguishable with current clinical methods. Even so, more than 12 recessive genes have been ide...

It is estimated that about 1 in 500 children are born with a significant hearing loss. Non-syndromic recessive hearing loss (NSRHL) represents a major aetiologic factor in childhood hearing loss since it accounts for approximately 40% of all cases. Many of these genetic forms of hearing loss are indistinguishable with current clinical methods. Even so, more than 12 recessive genes have been ide...

Hearing loss due to mutations in the connexin gene family, which encodes gap junctional proteins, is a common form of hereditary deafness. In particular, connexin 26 (Cx26, GJB2) mutations are responsible for ~50% of non-syndromic hearing loss, which is the highest incidence of genetic disease. In the clinic, Cx26 mutations cause various auditory phenotypes ranging from profound congenital deaf...

1. Review the patterns of hearing loss in hereditary hearing impairment. AL First, we must understand that genetic hearing loss seems to breach all categories of hearing loss, including the following: congenital, progressive, and adult onset; conductive, sensory, and neural; syndromic and nonsyndromic; high-frequency, low-frequency, or mixed frequency; and mild or profound. Genetic hearing loss...

H earing impairment is a common condition responsible for communication disorders affecting one in 1000 newborns. 2 A national poll by the China Association of the Handicapped in 1987 showed that 20.57 million people in the country were affected by auditory or speech disorders, accounting for 34% of the 60 million disabled or 1.58% of the total Chinese population (1.3 billion) (www.cdpf.org.cn)...

BACKGROUND A considerable amount of research has been published about genetic hearing impairment. Fifty to sixty percent of hearing loss is thought to have a genetic cause. Genes may also play a significant role in acquired hearing loss due to aging, noise exposure, or ototoxic medications. Between 1995 and 2012, over 100 causative genes have been identified for syndromic and nonsyndromic forms...

A representative sample of 6421 Saudi children were clinically examined and screened for hearing loss. Hearing impairment was detected in 494 children (7.7 per cent). In 326 of the children it was due to chronic secretory and suppurative otitis media (5.07 per cent) and in 168 of them sensorineural hearing loss (2.6 per cent). The study revealed that parental education, low income, and employme...

N-ethyl-N-nitrosourea (ENU)-induced mutagenesis is an important approach in the study of gene function and the establishment of human disease models. Here we report an ENU-induced mutation, Elfin, as a mouse model with hearing loss. Homozygous mutants were deaf and displayed severe ataxia, while heterozygous mice had a significant hearing loss. Histological analysis of the inner ear revealed th...

Title of Document: PERCEPTUAL CONSEQUENCES OF EARLY-ONSET HEREDITARY HEARING LOSS IN THE BELGIAN WATERSLAGER CANARY (SERINUS CANARIUS) Amanda M. Lauer, Doctor of Philosophy, 2006 Directed By: Professor Robert J. Dooling, Department of Psychology Belgian Waterslager canaries (BWS) are bred for a distinctive low-pitched song that includes sounds that are thought to resemble water. This strain of ...