[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].
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 1A-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 1B) 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.
Pennings
R J E
RJ
Afd. Keel-, Neus- en Oorheelkunde, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. r.pennings@kno.azn.nl
Kremer
H
H
Deutman
A F
AF
Kimberling
W J
WJ
Cremers
C W R J
CW
D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome; D015837:Vestibular Diseases / Q000235:genetics*