Ontology highlight
ABSTRACT:
SUBMITTER: Riahi Z
PROVIDER: S-EPMC4370767 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Riahi Zied Z Bonnet Crystel C Zainine Rim R Lahbib Saida S Bouyacoub Yosra Y Bechraoui Rym R Marrakchi Jihène J Hardelin Jean-Pierre JP Louha Malek M Largueche Leila L Ben Yahia Salim S Kheirallah Moncef M Elmatri Leila L Besbes Ghazi G Abdelhak Sonia S Petit Christine C
PloS one 20150323 3
Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa. We performed whole exome sequencing in four unrelated Tunisian patients affected by apparently iso ...[more]