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

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

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

Afiliação

Vernon H; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.
Cohen J; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.
De Nittis P; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Fatemi A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.
McClellan R; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.
Goldstein A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Malerba N; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Guex N; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
Reymond A; Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Merla G; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.

Clin Genet ; 93(6): 1254-1256, 2018 06.

Article em En | MEDLINE | ID: mdl-29368331

ABSTRACT

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.

Assuntos

Arritmias Cardíacas/complicações; Arritmias Cardíacas/genética; Subunidades beta da Proteína de Ligação ao GTP/genética; Deficiência Intelectual/complicações; Deficiência Intelectual/genética; Mutação/genética; Sequência de Aminoácidos; Pré-Escolar; Evolução Molecular; Subunidades beta da Proteína de Ligação ao GTP/química; Heterozigoto; Humanos; Lactente; Masculino; Linhagem

Palavras-chave

GNB5; ID; IDDCA; LADCI; cardiac arrhythmia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arritmias Cardíacas / Subunidades beta da Proteína de Ligação ao GTP / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article

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