Ontology highlight
ABSTRACT:
SUBMITTER: Mohren L
PROVIDER: S-EPMC11372089 | biostudies-literature | 2024 Sep
REPOSITORIES: biostudies-literature
Mohren Lars L Erdlenbruch Friedrich F Leitão Elsa E Kilpert Fabian F Hönes G Sebastian GS Kaya Sabine S Schröder Christopher C Thieme Andreas A Sturm Marc M Park Joohyun J Schlüter Agatha A Ruiz Montserrat M Morales de la Prida Moisés M Casasnovas Carlos C Becker Kerstin K Roggenbuck Ulla U Pechlivanis Sonali S Kaiser Frank J FJ Synofzik Matthis M Wirth Thomas T Anheim Mathieu M Haack Tobias B TB Lockhart Paul J PJ Jöckel Karl-Heinz KH Pujol Aurora A Klebe Stephan S Timmann Dagmar D Depienne Christel C
Nature communications 20240903 1
Repeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 AAG repeats (full penetrance), but the sequence of pathogenic and non-pathogenic expansions remains unexplored. Here, we demonstrate that STRling and ExpansionHunter accurately detect FGF14 expansions from short-read genome data using outlier approaches. By combining long-range PCR and nanopore sequencing in 169 patients with cerebe ...[more]