Usher syndrome is inherited in an autosomal recessive pattern. The genes implicated in Usher syndrome are described below.
Specialty
Ophthalmology
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. It is a major cause of deafblindness and is at present incurable.
Usher syndrome is classed into three subtypes (I, II and III) according to the genes responsible and the onset of deafness. All three subtypes are caused by mutations in genes involved in the function of the inner ear and retina. These mutations are inherited in an autosomal recessive pattern.
The occurrence of Usher syndrome varies across the world and across the different syndrome types, with rates as high as 1 in 12,500 in Germany[2] to as low as 1 in 28,000 in Norway.[3] Type I is most common in Ashkenazi Jewish and Acadian populations, and type III is rarely found outside Ashkenazi Jewish and Finnish[4] populations. Usher syndrome is named after Scottish ophthalmologist Charles Usher, who examined the pathology and transmission of the syndrome in 1914.
^Mets MB, Young NM, Pass A, Lasky JB (2000). "Early diagnosis of Usher syndrome in children". Transactions of the American Ophthalmological Society. 98: 237–45. PMC 1298229. PMID 11190026.
^Cite error: The named reference :0 was invoked but never defined (see the help page).
^Cite error: The named reference :1 was invoked but never defined (see the help page).
^Pakarinen L, Tuppurainen K, Laipapala P, Mäntyjärvi M, Puhakka H (1996). "The ophthalmological course of Usher syndrome type III". International Ophthalmology. 19 (5): 307–311. doi:10.1007/BF00130927. PMID 8864816. S2CID 26501078.
Ushersyndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome...
Usher (disambiguation), adaptations of Poe's work Gentleman Usher of an order of knights in the United Kingdom Usher 1C, a human gene Ushersyndrome,...
Ushersyndrome is the most common condition that causes both deafness and blindness, accounting for around 50% of hereditary deafblindness. Usher syndrome...
in hearing, balance, and vision. Mutations at the USH1C locus cause Ushersyndrome type 1c and nonsyndromic sensorineural deafness. The USH1C gene is located...
1979) is an American psychotherapist and author. Deafblind due to Ushersyndrome, Alexander wrote a memoir in 2014 about coming to terms with her deteriorating...
prostate cancer Stickler syndrome TAR syndrome trimethylaminuria UshersyndromeUshersyndrome type II Van der Woude syndrome Variegate porphyria G-banding...
and also worked in the Aberdeen Royal Infirmary. Usher is known for the eponymous UsherSyndrome, which he described in a 1914 treatise titled On the...
have been shown to result in Usher'ssyndrome. Knockouts of Vlgr1 in mice have been shown to phenocopy Usher'ssyndrome and lead to audiogenic seizures...
epithelium of the nasal mucosa. Mutations in the MYO7A gene cause the Ushersyndrome type 1B, a combined deafness/blindness disorder. Affected individuals...
ear and retina. Mutations within this gene have been associated with Ushersyndrome type IIa. Alternatively spliced transcript variants that encode different...
can be used for clinical diagnosis of a genetic condition, including Ushersyndrome, retinal disease, hearing impairments, diabetes, epilepsy, Leigh disease...
is called Ushersyndrome. Alport's syndrome is associated with RP and an abnormal glomerular-basement membrane leading to nephrotic syndrome. It is inherited...
Usher 1C is a human gene. Recessive alleles of this gene are responsible for type 1C Ushersyndrome and nonsyndromic deafness. The official name of the...
pemphigus, pemphigus herpetiformis, drug-induced pemphigus, Senear Ushersyndrome, and endemic pemphigus foliaceus exist, and are recognized by a dermatologist...
located in a region containing the human deafness loci DFNB12 and USH1D. Ushersyndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by...
Genetic conditions (evident at a later stage in life): 37–49 Ushersyndrome Alport syndrome Age-related loss of modality (vision or auditory or both) Illness...
degenerative diseases, including retinitis pigmentosa, macular degeneration, Ushersyndrome, Stargardt disease and related conditions. These diseases, which affect...
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