Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Sofia Steinrücke; Katja Lohmann; Aloysius Domingo; Arndt Rolfs; Tobias Bäumer; Juliane Spiegler; Corinna Hartmann; Alexander Münchau

doi:10.1212/NXG.0000000000000106

Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Sofia Steinrücke, Katja Lohmann, Aloysius Domingo, Arndt Rolfs, Tobias Bäumer, Juliane Spiegler, Corinna Hartmann, Alexander Münchau

Universität Rostock

41 Zitate (Scopus)

Abstract

Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found in 2 patients.(1).

Originalsprache	Englisch
Zeitschrift	Neurology Genetics
Jahrgang	2
Ausgabenummer	5
ISSN	2376-7839
DOIs	https://doi.org/10.1212/NXG.0000000000000106
Publikationsstatus	Veröffentlicht - 10.2016

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Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)

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10.1212/NXG.0000000000000106

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abstract = "Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found in 2 patients.(1).",

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T1 - Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

AU - Steinrücke, Sofia

AU - Lohmann, Katja

AU - Domingo, Aloysius

AU - Rolfs, Arndt

AU - Bäumer, Tobias

AU - Spiegler, Juliane

AU - Hartmann, Corinna

AU - Münchau, Alexander

PY - 2016/10

Y1 - 2016/10

N2 - Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found in 2 patients.(1).

AB - Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found in 2 patients.(1).

UR - http://www.mendeley.com/research/novel-gnb1-missense-mutation-patient-generalized-dystonia-hypotonia-intellectual-disability

U2 - 10.1212/NXG.0000000000000106

DO - 10.1212/NXG.0000000000000106

M3 - Journal articles

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VL - 2

JO - Neurology Genetics

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IS - 5

ER -

Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Abstract

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