Benutzer: Gast  Login
Titel:

Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.

Dokumenttyp:
Article; Journal Article
Autor(en):
Silvaieh, Sara; König, Theresa; Wurm, Raphael; Parvizi, Tandis; Berger-Sieczkowski, Evelyn; Goeschl, Stella; Hotzy, Christoph; Wagner, Matias; Berutti, Riccardo; Sammler, Esther; Stögmann, Elisabeth; Zimprich, Alexander
Abstract:
Early-onset dementia (EOD), with symptom onset before age 65, has a strong genetic burden. Due to genetic and clinical overlaps between different types of dementia, whole-exome sequencing (WES) has emerged as an appropriate screening method for diagnostic testing and novel gene-finding approaches. We performed WES and C9orf72 repeat testing in 60 well-defined Austrian EOD patients. Seven patients (12%) carried likely disease-causing variants in monogenic genes, PSEN1, MAPT, APP, and GRN. Five pa...     »
Zeitschriftentitel:
Hum Genomics
Jahr:
2023
Band / Volume:
17
Heft / Issue:
1
Volltext / DOI:
doi:10.1186/s40246-023-00499-z
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37330543
Print-ISSN:
1473-9542
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann)
 BibTeX