Development of a genotyping microarray for Usher syndrome.

Development of a genotyping microarray for Usher syndrome. Research Abstract Details 

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Development of a genotyping microarray for Usher syndrome. Abstract Text:

Frans P M Cremers,William J Kimberling,Maigi ,Arjan P de Brouwer,Erwin van Wijk,Heleen te Brinke,Cor W R J Cremers,Lies H Hoefsloot,Sandro Banfi,Francesca Simonelli,Johannes C Fleischhauer,Wolfgang Berger,Phil M Kelley,Elene Haralambous,Maria Bitner-Glindzicz,Andrew R Webster,Zubin Saihan,Elfride De Baere,Bart P Leroy,Giuliana Silvestri,Gareth J McKay,Robert K Koenekoop,Jose M Millan,Thomas Rosenberg,Tarja Joensuu,Eeva-Marja Sankila,Dominique Weil,Mike D Weston,Bernd Wissinger,Hannie Kremer,

BACKGROUND: Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high degree of clinical and genetic heterogeneity. Three clinical subtypes can be distinguished, based on the age of onset and severity of the hearing impairment, and the presence or absence of vestibular abnormalities. Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons. METHODS: To improve DNA diagnostics for patients with Usher syndrome, we developed a genotyping microarray based on the arrayed primer extension (APEX) method. Allele-specific oligonucleotides corresponding to all 298 Usher syndrome-associated sequence variants known to date, 76 of which are novel, were arrayed. RESULTS: Approximately half of these variants were validated using original patient DNAs, which yielded an accuracy of >98%. The efficiency of the Usher genotyping microarray was tested using DNAs from 370 unrelated European and American patients with Usher syndrome. Sequence variants were identified in 64/140 (46%) patients with Usher syndrome type I, 45/189 (24%) patients with Usher syndrome type II, 6/21 (29%) patients with Usher syndrome type III and 6/20 (30%) patients with atypical Usher syndrome. The chip also identified two novel sequence variants, c.400C>T (p.R134X) in PCDH15 and c.1606T>C (p.C536S) in USH2A. CONCLUSION: The Usher genotyping microarray is a versatile and affordable screening tool for Usher syndrome. Its efficiency will improve with the addition of novel sequence variants with minimal extra costs, making it a very useful first-pass screening tool.

Development of a genotyping microarray for Usher syndrome. Publishing Authors By Initials

FP Cremers,WJ Kimberling,M ,AP de Brouwer,E van Wijk,H te Brinke,CW Cremers,LH Hoefsloot,S Banfi,F Simonelli,JC Fleischhauer,W Berger,PM Kelley,E Haralambous,M Bitner-Glindzicz,AR Webster,Z Saihan,E De Baere,BP Leroy,G Silvestri,GJ McKay,RK Koenekoop,JM Millan,T Rosenberg,T Joensuu,EM Sankila,D Weil,MD Weston,B Wissinger,H Kremer,

For similar genetic phenomena: variation (genetics) research abstracts see: genetic phenomena: variation (genetics) research

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MEDLINE DATE:

Development of a genotyping microarray for Usher syndrome. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Journal of medical genetics

VOLUME: 44

Page Numbers: 153-60

Journal Abbreviation: J. Med. Genet.

ISSN: 1468-6244

DAY: 8

MONTH: 09

YEAR: 2006

Development of a genotyping microarray for Usher syndrome. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 2985087

Development of a genotyping microarray for Usher syndrome. Keywords Mesh Terms:

KEYWORDS: Variation (Genetics)

MESH TERMS: genetics

Chemical & Substance for Abstract: Development of a genotyping microarray for Usher syndrome. Information

Substance Name: DNA

Registry Number: 9007-49-2

Grant and Affiliation Information for Development of a genotyping microarray for Usher syndrome.

AFFILIATION: Department of Human Genetics, and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. F.Cremers@antrg.umcn.nl

Country: England

AGENCY: United States NIDCD

GRANT: 5P01DC01813

ACRONYM: DC

MEDLINETA: J Med Genet

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