Van gen naar ziekte; genetische oorzaken van slechthorendheid en slechtziendheid, soms gepaard gaande met evenwichtsproblemen (Usher-syndroom)

Translated title of the contribution: From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)

R. J.E. Pennings, H. Kremer, A. F. Deutman, W. J. Kimberling, C. W.R.J. Cremers

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Usher syndrome is an autosomal recessively inherited disease, characterised by sensorineural hearing loss, tapetoretinal degeneration and in some cases vestibular problems. Based on the clinical heterogeneity, the disease can be classified into three clinical types (I, II and III), which have their own genetic subtypes (Usher IA-Usher IG, Usher 2A-Usher 2C and Usher 3). The majority of the Usher type I cases are caused by mutations in the MYO7A gene (Usher IB) while mutations in the USH2A gene (Usher 2A) are the cause of most cases of type II. Usher syndrome type III, caused by mutations in the USH3 gene, is frequently seen only in Finland.

Original languageDutch
Pages (from-to)2354-2358
Number of pages5
JournalNederlands Tijdschrift voor Geneeskunde
Volume146
Issue number49
Publication statusPublished - Dec 7 2002

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Pennings, R. J. E., Kremer, H., Deutman, A. F., Kimberling, W. J., & Cremers, C. W. R. J. (2002). Van gen naar ziekte; genetische oorzaken van slechthorendheid en slechtziendheid, soms gepaard gaande met evenwichtsproblemen (Usher-syndroom). Nederlands Tijdschrift voor Geneeskunde, 146(49), 2354-2358.