Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

H Vernon; J Cohen; P De Nittis; A Fatemi; R McClellan; A Goldstein; N Malerba; N Guex; A Reymond; G Merla

doi:10.1111/cge.13194

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

Clin Genet. 2018 Jun;93(6):1254-1256. doi: 10.1111/cge.13194. Epub 2018 Jan 25.

Authors

H Vernon¹, J Cohen¹, P De Nittis², A Fatemi¹, R McClellan¹, A Goldstein³, N Malerba⁴, N Guex^{2

5}, A Reymond², G Merla⁴

Affiliations

¹ Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.
² Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
³ Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
⁴ Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
⁵ Swiss Institute of Bioinformatics, Lausanne, Switzerland.

PMID: 29368331
DOI: 10.1111/cge.13194

Abstract

Identification of a novel compound heterozygous of GNB5 in a patient with intellectual developmental disorder with cardiac arrhytmia (IDDCA), from non-consaguineous family. Three-dimensional modelling and in silico predictions suggest that GNB5 variants are causative of the phenotype, extending the number of IDDCA patients so far identified.

Keywords: GNB5; ID; IDDCA; LADCI; cardiac arrhythmia.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Arrhythmias, Cardiac / complications*
Arrhythmias, Cardiac / genetics*
Child, Preschool
Evolution, Molecular
GTP-Binding Protein beta Subunits / chemistry
GTP-Binding Protein beta Subunits / genetics*
Heterozygote
Humans
Infant
Intellectual Disability / complications*
Intellectual Disability / genetics*
Male
Mutation / genetics*
Pedigree

Substances

GNB5 protein, human
GTP-Binding Protein beta Subunits