Article
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
American journal of human genetics - 3 Apr 2025
Kaminska Karolina, Cancellieri Francesca, Quinodoz Mathieu, Moye Abigail R, Bauwens Miriam, Lin Siying, Janeschitz-Kriegl Lucas, Hayman Tamar, Barberán-Martínez Pilar, Schlaeger Regina, Van den Broeck Filip, Ávila Fernández Almudena, Fernández-Caballero Lidia, Perea-Romero Irene, García-García Gema, Salom David, Mazzola Pascale, Zuleger Theresia, Poths Karin, Haack Tobias B, Jacob Julie, Vermeer Sascha, Terbeek Frédérique, Feltgen Nicolas, Moulin Alexandre P, Koutroumanou Louisa, Papadakis George, Browning Andrew C, Madhusudhan Savita, Gränse Lotta, Banin Eyal, Sousa Ana Berta, Coutinho Santos Luisa, Kuehlewein Laura, De Angeli Pietro, Leroy Bart P, Mahroo Omar A, Sedgwick Fay, Eden James, Pfau Maximilian, Andréasson Sten, Scholl Hendrik P N, Ayuso Carmen, Millán José M, Sharon Dror, Tsilimbaris Miltiadis K, Vaclavik Veronika, Tran Hoai V, Ben-Yosef Tamar, De Baere Elfride, Webster Andrew R, Arno Gavin, Sergouniotis Panagiotis I, Kohl Susanne, Santos Cristina, Rivolta Carlo
Abstract excerpt
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci account for the majority of molecular diagnoses, other genes associated with IRD await molecular identification. In this study, we uncover bi-allelic assortments of 23 different (22 loss-of-function)...
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