Article
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2021
Weerts Marjolein J A, Lanko Kristina, Guzmán-Vega Francisco J, Jackson Adam, Ramakrishnan Reshmi, Cardona-Londoño Kelly J, Peña-Guerra Karla A, van Bever Yolande, van Paassen Barbara W, Kievit Anneke, van Slegtenhorst Marjon, Allen Nicholas M, Kehoe Caroline M, Robinson Hannah K, Pang Lewis, Banu Selina H, Zaman Mashaya, Efthymiou Stephanie, Houlden Henry, Järvelä Irma, Lauronen Leena, Määttä Tuomo, Schrauwen Isabelle, Leal Suzanne M, Ruivenkamp Claudia A L, Barge-Schaapveld Daniela Q C M, Peeters-Scholte Cacha M P C D, Galehdari Hamid, Mazaheri Neda, Sisodiya Sanjay M, Harrison Victoria, Sun Angela, Thies Jenny, Pedroza Luis Alberto, Lara-Taranchenko Yana, Chinn Ivan K, Lupski James R, Garza-Flores Alexandra, McGlothlin Jeffery, Yang Lin, Huang Shaoping, Wang Xiaodong, Jewett Tamison, Rosso Gretchen, Lin Xi, Mohammed Shehla, Merritt J Lawrence, Mirzaa Ghayda M, Timms Andrew E, Scheck Joshua, Elting Mariet W, Polstra Abeltje M, Schenck Lauren, Ruzhnikov Maura R Z, Vetro Annalisa, Montomoli Martino, Guerrini Renzo, Koboldt Daniel C, Mosher Theresa Mihalic, Pastore Matthew T, McBride Kim L, Peng Jing, Pan Zou, Willemsen Marjolein, Koning Susanne, Turnpenny Peter D, de Vries Bert B A, Gilissen Christian, Pfundt Rolph, Lees Melissa, Braddock Stephen R, Klemp Kara C, Vansenne Fleur, van Gijn Marielle E, Quindipan Catherine, Deardorff Matthew A, Hamm J Austin, Putnam Abbey M, Baud Rebecca, Walsh Laurence, Lynch Sally A, Baptista Julia, Person Richard E, Monaghan Kristin G, Crunk Amy, Keller-Ramey Jennifer, Reich Adi, Elloumi Houda Zghal, Alders Marielle, Kerkhof Jennifer, McConkey Haley, Haghshenas Sadegheh, Maroofian Reza, Sadikovic Bekim, Banka Siddharth, Arold Stefan T, Barakat Tahsin Stefan
Abstract excerpt
PURPOSE: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort....