Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Schaiter, E.
The Mutational Landscape of Patients with Usher Syndrome in Southern Austria
Humanmedizin; [ Diplomarbeit ] Graz Medical University; 2021. pp. 93
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- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Posch-Pertl Laura
- Verheyen Sarah
- Wedrich Andreas
- Altmetrics:
- Abstract:
- Introduction – Usher syndrome (USH) is an autosomal recessive disease leading to sensorineural hearing loss and progredient visual loss due to retinitis pigmentosa(1,2). This study aims to identify variants in USH associated genes and their prevalence in southern Austria. According to Bonnet et al. 2016 the most common mutation in USH associated genes in Slovenia is USH2A:c.11864G>A (p.Trp3955*)(3). Due to the geographic proximity we assume a prevalence of the c.11864G>A variant > 8% in southern Austria. Methods – We included 17 patients with clinically confirmed USH in our study. Targeted exome sequencing was used to identify mutations on USH associated genes and modifier genes. If no mutations or a monoallelic mutation was found, SNP array analysis was performed to identify copy number variations. Results – Mono- or biallelic mutations were detected in 94.12% (16/17) of the cases. The majority of variants was identified in the USH2-related genes: in 76.47% (13/17) in the USH2A gene and in 11.76% (2/17) in the ADGRV1 gene. Five subjects (29.4%) carried the c.11864G>A variant on one allele of the USH2A gene. A biallelic homozygous deletion of exon 20 in the CDH23 gene was found in one subject. Discussion – To our knowledge this is the first study to assess the mutational landscape of USH patients in southern Austria. Our results support our hypothesis that the mutational landscape in southern Austria is similar to that of Slovenia. The variant c.11864G>A in the USH2A gene has a prevalence > 8% in southern Austria.