作者
Alison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, Iris M de Lange, Jasper J van der Smagt, Golder N Wilson, Holly Dubbs, Ethan M Goldberg, Lia Zitano, Caleb Bupp, Jose Martinez, Myriam Srour, Andrea Accogli, Afnan Alhakeem, Meira Meltzer, Andrea Gropman, Carole Brewer, Richard C Caswell, Tara Montgomery, Caoimhe McKenna, Shane McKee, Corinna Powell, Pradeep C Vasudevan, Angela F Brady, Shelagh Joss, Carolyn Tysoe, Grace Noh, Mark Tarnopolsky, Lauren Brady, Muhammad Zafar, Samantha A Schrier Vergano, Brianna Murray, Lindsey Sawyer, Bryan E Hainline, Katherine Sapp, Danielle DeMarzo, Darcy J Huismann, Ingrid M Wentzensen, Rhonda E Schnur, Kristin G Monaghan, Jane Juusola, Lindsay Rhodes, William B Dobyns, Francois Lecoquierre, Alice Goldenberg, Tilman Polster, Susanne Axer-Schaefer, Konrad Platzer, Chiara Klöckner, Trevor L Hoffman, Daniel G MacArthur, Melanie C O’Leary, Grace E VanNoy, Eleina England, Vinod C Varghese, Heather C Mefford
发表日期
2021/5
期刊
Genetics in Medicine
卷号
23
期号
5
页码范围
881-887
出版商
Nature Publishing Group US
简介
Purpose
Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molecular and phenotypic spectrum of a novel neurodevelopmental disorder caused by variants in the GNAI1 gene.
Methods
Through large cohort trio-based exome sequencing and international data-sharing, we identified 24 unrelated individuals with NDD phenotypes and a variant in GNAI1, which encodes the inhibitory Gαi1 subunit of heterotrimeric G-proteins. We collected detailed genotype and phenotype information for each affected individual.
Results
We identified 16 unique variants in GNAI1 in 24 affected individuals; 23 occurred de novo and 1 was inherited from a mosaic parent. Most affected individuals have a severe neurodevelopmental disorder. Core …
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AM Muir, JF Gardner, RH van Jaarsveld, IM de Lange… - Genetics in Medicine, 2021