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This became known as type 2B of the condition (with the gene designated WS2B), however it has not been documented since, and the gene responsible remains unknown. [ 21 ] [ 22 ] Type 2C was established in 2001 when a study of an Italian family with Waardenburg syndrome type 2 features found that they were due to an unknown gene on chromosome 8 ...
Usually, people with this disorder have ataxia, mild–moderate sensorineural hearing loss, narcolepsy, and cataplexy. These symptoms start happening when an affected person is about 30 years old. [6] [7] A bit later in life, people with ADCADN start showing a decline in executive function known as dementia.
Deafness in animals can occur as either unilateral (one ear affected) or bilateral (both ears affected). This occurrence of either type of deafness seems to be relatively the same in both mixed-breed animals and pure-breed animals. [5] Research has found a significant association between deafness in dogs and the pigment genes piebald and merle ...
The most common type of congenital hearing loss in developed countries is DFNB1, also known as connexin 26 deafness or GJB2-related deafness. The most common dominant syndromic forms of hearing loss include Stickler syndrome and Waardenburg syndrome. The most common recessive syndromic forms of hearing loss are Pendred syndrome and Usher syndrome.
Many genes related to deafness are involved in the development and function of the inner ear. Gene mutations interfere with critical steps in processing sound, resulting in hearing loss. Different mutations in the same gene can cause different types of hearing loss, and some genes are associated with both syndromic and nonsyndromic deafness.
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Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
Gene therapy has allowed several children born with inherited deafness to hear. On Tuesday, the Children's Hospital of Philadelphia announced similar improvements in an 11-year-old boy treated there.