Article
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
American journal of human genetics - 1 Sept 2016
Lodder Elisabeth M, De Nittis Pasquelena, Koopman Charlotte D, Wiszniewski Wojciech, Moura de Souza Carolina Fischinger, Lahrouchi Najim, Guex Nicolas, Napolioni Valerio, Tessadori Federico, Beekman Leander, Nannenberg Eline A, Boualla Lamiae, Blom Nico A, de Graaff Wim, Kamermans Maarten, Cocciadiferro Dario, Malerba Natascia, Mandriani Barbara, Akdemir Zeynep Hande Coban, Fish Richard J, Eldomery Mohammad K, Ratbi Ilham, Wilde Arthur A M, de Boer Teun, Simonds William F, Neerman-Arbez Marguerite, Sutton V Reid, Kok Fernando, Lupski James R, Reymond Alexandre, Bezzina Connie R, Bakkers Jeroen, Merla Giuseppe
Abstract excerpt
GNB5 encodes the G protein β subunit 5 and is involved in inhibitory G protein signaling. Here, we report mutations in GNB5 that are associated with heart-rate disturbance, eye disease, intellectual disability, gastric problems, hypotonia, and seizures in nine individuals from six families. We observed an association between the nature of the variants and clinical severity; individuals with loss-of-function...
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