Article
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2019
Konrad Enrico D H, Nardini Niels, Caliebe Almuth, Nagel Inga, Young Dana, Horvath Gabriella, Santoro Stephanie L, Shuss Christine, Ziegler Alban, Bonneau Dominique, Kempers Marlies, Pfundt Rolph, Legius Eric, Bouman Arjan, Stuurman Kyra E, Õunap Katrin, Pajusalu Sander, Wojcik Monica H, Vasileiou Georgia, Le Guyader Gwenaël, Schnelle Hege M, Berland Siren, Zonneveld-Huijssoon Evelien, Kersten Simone, Gupta Aditi, Blackburn Patrick R, Ellingson Marissa S, Ferber Matthew J, Dhamija Radhika, Klee Eric W, McEntagart Meriel, Lichtenbelt Klaske D, Kenney Amy, Vergano Samantha A, Abou Jamra Rami, Platzer Konrad, Ella Pierpont Mary, Khattar Divya, Hopkin Robert J, Martin Richard J, Jongmans Marjolijn C J, Chang Vivian Y, Martinez-Agosto Julian A, Kuismin Outi, Kurki Mitja I, Pietiläinen Olli, Palotie Aarno, Maarup Timothy J, Johnson Diana S, Venborg Pedersen Katja, Laulund Lone W, Lynch Sally A, Blyth Moira, Prescott Katrina, Canham Natalie, Ibitoye Rita, Brilstra Eva H, Shinawi Marwan, Fassi Emily, Sticht Heinrich, Gregor Anne, Van Esch Hilde, Zweier Christiane
Abstract excerpt
PURPOSE: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). METHODS: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous...
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