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Usher syndrome

Definition:

Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by deafness and vision loss. Three clinical types USH1, USH2, and USH3, are distinguished on the basis of severity of hearing loss and the presence or absence of vestibular dysfunction. USH1 patients are congenitally profoundly deaf, and have vestibular dysfunction as well as prepubertal onset of progressive retinitis pigmentosa (RP). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. USH3 is characterized by a progressive hearing loss, a variable vestibular dysfunction, and RP. USH shows significant genetic heterogeneity, and at least 11 distinct loci have been identified and genes for 9 of them have been cloned. Recently, USH4 caused by mutations in ARSG has been reported.

References:

[1]. Christel Vaché, et al. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat. 2012 Jan;33(1):104-8. [Content Brief]

[2]. Denise Yan, et al. Genetics and pathological mechanisms of Usher syndrome. J Hum Genet. 2010 Jun;55(6):327-35. [Content Brief]

[3]. Erik G Puffenberger, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. [Content Brief]

[4]. Guilian Tian, et al. Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton. J Biol Chem. 2009 Jul 10;284(28):18980-93. [Content Brief]

[5]. Saima Riazuddin, et al. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012 Nov;44(11):1265-71. [Content Brief]

[6]. Thomas B Friedman, et al. Usher syndrome type 1: genotype-phenotype relationships. Retina. 2005 Dec;25(8 Suppl):S40-S42. [Content Brief]

[7]. Víctor Abad-Morales, et al. Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4. Am J Ophthalmol Case Rep. 2020 May 8;19:100736. [Content Brief]

[8]. Zubair M Ahmed, et al. Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. J Med Genet. 2018 Jul;55(7):479-488. [Content Brief]

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