Article
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.
Biomolecules - 23 Apr 2023
Alesi Viola, Genovese Silvia, Lepri Francesca Romana, Catino Giorgia, Loddo Sara, Orlando Valeria, Di Tommaso Silvia, Morgia Alessandra, Martucci Licia, Di Donato Maddalena, Digilio Maria Cristina, Dallapiccola Bruno, Novelli Antonio, Capolino Rossella
Abstract excerpt
Neurofibromatosis type 1 is an autosomal-dominant condition caused by NF1 gene inactivation. Clinical diagnosis is corroborated by genetic tests on gDNA and cDNA, which are inconclusive in approximately 3-5% of cases. Genomic DNA approaches may overlook splicing-affecting intronic variants and structural rearrangements, especially in regions enriched in repetitive sequences. On the other hand, while cDNA-based...
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