Aug 2, 2022

Deep Intronic Variant in MVK as a Cause for Mevalonic Aciduria Initially Presenting as Non-syndromic Retinitis Pigmentosa

Clinical genetics
Anna Dvaladze, Erika Tavares, Matteo Di Scipio, Graeme Nimmo, Monika K Grudzinska-Pechhacker, Tara Paton, Anupreet Tumber, Shuning Li, Christabel Eileen, Birgit Ertl-Wagner, Eva Mamak, Georg Hoffmann, Christian R Marshall, Dorothea Haas, Ertan Mayatepek, Andreas Schulze, Elise Heon, Ajoy Vincent
Non-syndromic retinitis pigmentosa (NSRP) is a clinically and genetically heterogeneous group of disorders characterized by progressive degeneration of the rod and cone photoreceptors, often leading to blindness. The evolving association of syndromic genes to cause NSRP and the increasing role of intronic variants in explaining missing heritability in genetic disorders present challenges in establishing conclusive clinical and genetic diagnoses. This study sought to identify and validate the...