Development of a genotyping microarray for Usher syndrome

Frans P M Cremers, William J Kimberling, Maigi Külm, 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 SilvestriGareth J McKay, Robert K Koenekoop, Jose M Millan, Thomas Rosenberg, Tarja Joensuu, Eeva-Marja Sankila, Dominique Weil, Mike D Weston, Bernd Wissinger, Hannie Kremer

Research output: Contribution to journalArticle

87 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)153-60
Number of pages8
JournalJournal of Medical Genetics
Volume44
Issue number2
DOIs
Publication statusPublished - Feb 2007

Keywords

  • DNA
  • DNA Primers
  • Europe
  • Genetic Variation
  • Genotype
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Usher Syndromes

Fingerprint Dive into the research topics of 'Development of a genotyping microarray for Usher syndrome'. Together they form a unique fingerprint.

  • Cite this

    Cremers, F. P. M., Kimberling, W. J., Külm, M., de Brouwer, A. P., van Wijk, E., te Brinke, H., Cremers, C. W. R. J., Hoefsloot, L. H., Banfi, S., Simonelli, F., Fleischhauer, J. C., Berger, W., Kelley, P. M., Haralambous, E., Bitner-Glindzicz, M., Webster, A. R., Saihan, Z., De Baere, E., Leroy, B. P., ... Kremer, H. (2007). Development of a genotyping microarray for Usher syndrome. Journal of Medical Genetics, 44(2), 153-60. https://doi.org/10.1136/jmg.2006.044784