Usher Syndrome
Usher Syndrome is a combination of retinitis pigmentosa and sensorineural hearing loss with or without vestibular dysfunction. Usher Syndrome represents 50% of all cases with deafness and blindness. Usher Syndrome is inherited in an autosomal recessive manner. Three major clinical types can be distinguished. Usher Syndrome Type I (USH1) is characterized by severe to profound congenital hearing loss, RP and vestibular areflexia. Patients with Usher Syndrome type II (USH2) have moderate to severe hearing loss, RP and normal or variable vestibular function. Usher Syndrome type III (USH3) patients present with progressive hearing loss, RP and variable vestibular function.
Asper has been developed genetic test for screening mutations underlying all major types of Usher syndrome. Currently the test can be used for the screening of 612 mutations in genes CDH23, MYO7A, PCDH15, USH1C, USH1G, USH2A, GPR98, CLRN1 and DFNB31. These genes carry mutations in patients with Usher Syndrome types USH1B, USH1C, USH1D, USH1F, USH1G, USH2A, USH2C, USH2D and USH3A as well as Nonsyndromic Hearing Loss and Deafness types DFNB2, DFNB12, DFNB18, DFNB23, DFNB31 and DFNA11 and also Retinitis Pigmentosa.
Identification of the causal mutations is important for the early diagnosis of Usher syndrome, which is relevant for the decision whether or not to elect for a cochlear implant, and for genetic counselling and for prenatal diagnosis. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
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Usher Syndrome – more info.
For further information:
Molecular epidemiology of Usher syndrome in Italy
Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P
Mol Vis. 2011; 17: 1662–1668.
Development of a Genotyping Microarray for Usher Syndrome
Cremers FP, Kimberling WJ, Kulm M, de Brouwer A, van Wijk E, Te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, Debaere E, Leroy BP, Silvestri G, McKay G, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H.
J Med Genet. 2006 Sep 8
Microarray-based mutation analysis of 183 Spanish families suffering from Usher Syndrome
Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernandez A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millan JM.
Invest Ophthalmol Vis Sci. 2009 Aug 13.
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