Ontology highlight
ABSTRACT:
SUBMITTER: Vache C
PROVIDER: S-EPMC7343966 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Vaché Christel C Puechberty Jacques J Faugère Valérie V Darmaisin Floriane F Liquori Alessandro A Baux David D Blanchet Catherine C Garcia-Garcia Gema G Meunier Isabelle I Pellestor Franck F Koenig Michel M Roux Anne-Françoise AF
Frontiers in genetics 20200702
Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties. The <i>PCDH15</i> gene, one of the five genes implicated in this disease, is involved in 8-20% of cases. In this study, we aimed to identify and characterize the two causal variants in a French patient with typical Usher syndrome clinical features. Massively parallel sequencing-based gene panel an ...[more]