Article
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.
Nature communications - 3 Sept 2024
Mohren Lars, Erdlenbruch Friedrich, Leitão Elsa, Kilpert Fabian, Hönes G Sebastian, Kaya Sabine, Schröder Christopher, Thieme Andreas, Sturm Marc, Park Joohyun, Schlüter Agatha, Ruiz Montserrat, Morales de la Prida Moisés, Casasnovas Carlos, Becker Kerstin, Roggenbuck Ulla, Pechlivanis Sonali, Kaiser Frank J, Synofzik Matthis, Wirth Thomas, Anheim Mathieu, Haack Tobias B, Lockhart Paul J, Jöckel Karl-Heinz, Pujol Aurora, Klebe Stephan, Timmann Dagmar, Depienne Christel
Abstract excerpt
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...
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