GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
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ABSTRACT:
SUBMITTER: Lodder EM
PROVIDER: S-EPMC5010642 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder Elisabeth M EM De Nittis Pasquelena P Koopman Charlotte D CD Wiszniewski Wojciech W Moura de Souza Carolina Fischinger CF Lahrouchi Najim N Guex Nicolas N Napolioni Valerio V Tessadori Federico F Beekman Leander L Nannenberg Eline A EA Boualla Lamiae L Blom Nico A NA de Graaff Wim W Kamermans Maarten M Cocciadiferro Dario D Malerba Natascia N Mandriani Barbara B Akdemir Zeynep Hande Coban ZHC Fish Richard J RJ Eldomery Mohammad K MK Ratbi Ilham I Wilde Arthur A M AAM de Boer Teun T Simonds William F WF Neerman-Arbez Marguerite M Sutton V Reid VR Kok Fernando F Lupski James R JR Reymond Alexandre A Bezzina Connie R CR Bakkers Jeroen J Merla Giuseppe G
American journal of human genetics 20160811 3
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 alleles had more severe symptoms, including substantial developmental delay, speech defec ...[more]
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