Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J Cardona-Londoño, Karla A Peña-Guerra, Yolande van Bever, Barbara W van Paassen, Anneke Kievit, Marjon van Slegtenhorst, Nicholas M Allen, Caroline M Kehoe, Hannah K Robinson, Lewis Pang, Selina H Banu, Mashaya Zaman, Stephanie Efthymiou, Henry Houlden, Irma Järvelä, Leena Lauronen, Tuomo Määttä, Isabelle Schrauwen, Suzanne M Leal, Claudia A L Ruivenkamp, Daniela Q C M Barge-Schaapveld, Cacha M P C D Peeters-Scholte, Hamid Galehdari, Neda Mazaheri, Sanjay M Sisodiya, Victoria Harrison, Angela Sun, Jenny Thies, Luis Alberto Pedroza, Yana Lara-Taranchenko, Ivan K Chinn, James R Lupski, Alexandra Garza-Flores, Jeffery McGlothlin, Lin Yang, Shaoping Huang, Xiaodong Wang, Tamison Jewett, Gretchen Rosso, Xi Lin, Shehla Mohammed, J Lawrence Merritt, Ghayda M Mirzaa, Andrew E Timms, Joshua Scheck, Mariet W Elting, Abeltje M Polstra, Lauren Schenck, Maura R Z Ruzhnikov, Annalisa Vetro, Martino Montomoli, Renzo Guerrini, Daniel C Koboldt, Theresa Mihalic Mosher, Matthew T Pastore, Kim L McBride, Jing Peng, Zou Pan, Marjolein Willemsen, Susanne Koning, Peter D Turnpenny, Bert B A de Vries, Christian Gilissen, Rolph Pfundt, Melissa Lees, Stephen R Braddock, Kara C Klemp, Fleur Vansenne, Marielle E van Gijn, Catherine Quindipan, Matthew A Deardorff, J Austin Hamm, Abbey M Putnam, Rebecca Baud, Laurence Walsh, Sally A Lynch, Julia Baptista, Richard E Person, Kristin G Monaghan, Amy Crunk, Jennifer Keller-Ramey, Adi Reich, Houda Zghal Elloumi, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Sadegheh Haghshenas, Reza Maroofian, Bekim Sadikovic, Siddharth Banka, Stefan T Arold, Tahsin Stefan Barakat
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. METHODS: We perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with SETD1B sequence variants, describing their molecular and phenotypic spectrum...
November 2021: Genetics in Medicine: Official Journal of the American College of Medical Genetics