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Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants
Author(s) -
Ver H.,
Cohen J.,
De Nittis P.,
Fatemi A.,
McClellan R.,
Goldstein A.,
Malerba N.,
Guex N.,
Reymond A.,
Merla G.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13194
Subject(s) - compound heterozygosity , phenotype , in silico , identification (biology) , genetics , intellectual disability , developmental disorder , heterozygote advantage , medicine , biology , genotype , psychiatry , gene , botany , autism
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.