Article
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
American journal of human genetics - 6 Jun 2024
Kalm Tassja, Schob Claudia, Völler Hanna, Gardeitchik Thatjana, Gilissen Christian, Pfundt Rolph, Klöckner Chiara, Platzer Konrad, Klabunde-Cherwon Annick, Ries Markus, Syrbe Steffen, Beccaria Francesca, Madia Francesca, Scala Marcello, Zara Federico, Hofstede Floris, Simon Marleen E H, van Jaarsveld Richard H, Oegema Renske, van Gassen Koen L I, Holwerda Sjoerd J B, Barakat Tahsin Stefan, Bouman Arjan, van Slegtenhorst Marjon, Álvarez Sara, Fernández-Jaén Alberto, Porta Javier, Accogli Andrea, Mancardi Margherita Maria, Striano Pasquale, Iacomino Michele, Chae Jong-Hee, Jang SeSong, Kim Soo Y, Chitayat David, Mercimek-Andrews Saadet, Depienne Christel, Kampmeier Antje, Kuechler Alma, Surowy Harald, Bertini Enrico Silvio, Radio Francesca Clementina, Mancini Cecilia, Pizzi Simone, Tartaglia Marco, Gauthier Lucas, Genevieve David, Tharreau Mylène, Azoulay Noy, Zaks-Hoffer Gal, Gilad Nesia K, Orenstein Naama, Bernard Geneviève, Thiffault Isabelle, Denecke Jonas, Herget Theresia, Kortüm Fanny, Kubisch Christian, Bähring Robert, Kindler Stefan
Abstract excerpt
Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants. Affected subjects present with a neurodevelopmental disorder characterized by diverse neurological...
Read the complete abstract on PubMed