Article
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules - 19 Mar 2024
Hitti-Malin Rebekkah J, Panneman Daan M, Corradi Zelia, Boonen Erica G M, Astuti Galuh, Dhaenens Claire-Marie, Stöhr Heidi, Weber Bernhard H F, Sharon Dror, Banin Eyal, Karali Marianthi, Banfi Sandro, Ben-Yosef Tamar, Glavač Damjan, Farrar G Jane, Ayuso Carmen, Liskova Petra, Dudakova Lubica, Vajter Marie, Ołdak Monika, Szaflik Jacek P, Matynia Anna, Gorin Michael B, Kämpjärvi Kati, Bauwens Miriam, De Baere Elfride, Hoyng Carel B, Li Catherina H Z, Klaver Caroline C W, Inglehearn Chris F, Fujinami Kaoru, Rivolta Carlo, Allikmets Rando, Zernant Jana, Lee Winston, Podhajcer Osvaldo L, Fakin Ana, Sajovic Jana, AlTalbishi Alaa, Valeina Sandra, Taurina Gita, Vincent Andrea L, Roberts Lisa, Ramesar Raj, Sartor Giovanna, Luppi Elena, Downes Susan M, van den Born L Ingeborgh, McLaren Terri L, De Roach John N, Lamey Tina M, Thompson Jennifer A, Chen Fred K, Tracewska Anna M, Kamakari Smaragda, Sallum Juliana Maria Ferraz, Bolz Hanno J, Kayserili Hülya, Roosing Susanne, Cremers Frans P M
Abstract excerpt
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes...
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