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

University of Rostock

40 Citations (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).

Original language	English
Journal	Neurology Genetics
Volume	2
Issue number	5
ISSN	2376-7839
DOIs	https://doi.org/10.1212/NXG.0000000000000106
Publication status	Published - 10.2016

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 10 Reduced Inequalities

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

Access to Document

10.1212/NXG.0000000000000106

Cite this

@article{62b811f433dd46dbba4e39baa8536f77,

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

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).",

author = "Sofia Steinr{\"u}cke and Katja Lohmann and Aloysius Domingo and Arndt Rolfs and Tobias B{\"a}umer and Juliane Spiegler and Corinna Hartmann and Alexander M{\"u}nchau",

year = "2016",

month = oct,

doi = "10.1212/NXG.0000000000000106",

language = "English",

volume = "2",

journal = "Neurology Genetics",

issn = "2376-7839",

number = "5",

}

TY - JOUR

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

C2 - 27668284

SN - 2376-7839

VL - 2

JO - Neurology Genetics

JF - Neurology Genetics

IS - 5

ER -

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

Abstract

UN SDGs

Research Areas and Centers

Access to Document

Other files and links

Fingerprint

Cite this