Cited by 114Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesHereditary Neurological Disorders

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

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Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.·2016·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2016.03.011PMC PMC4863562

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Abstract

Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of GNB1, a gene encoding the guanine nucleotide-binding protein subunit beta-1, Gβ. These 13 individuals were identified among a base of 5,855 individuals recruited for various undiagnosed genetic disorders. The probability of observing 13 or more de novo mutations by chance among 5,855 individuals is very low (p = 7.1 × 10(-21)), implicating GNB1 as a genome-wide-significant disease-associated gene. The majority of these 13 mutations affect known Gβ binding sites, which suggests that a likely disease mechanism is through the disruption of the protein interface required for Gα-Gβγ interaction (resulting in a constitutively active Gβγ) or through the disruption of residues relevant for interaction between Gβγ and certain downstream effectors (resulting in reduced interaction with the effectors). Strikingly, 8 of the 13 individuals recruited here for a neurodevelopmental disorder have a germline de novo GNB1 mutation that overlaps a set of five recurrent somatic tumor mutations for which recent functional studies demonstrated a gain-of-function effect due to constitutive activation of G protein downstream signaling cascades for some of the affected residues.

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Authors: Petrovski, S., Küry, S., Myers, C. T., Anyane-Yeboa, K., Cogné, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., Besnard, T., Becraft, E., Wadley, A., Politi, A. R., Colombo, S., Zhu, X., Ren, Z., Andrews, I., Dudding-Byth, T., Schneider, A. L., Wallace, G., Rosen, A. B. I., Schelley, S., Enns, G. M., Corre, P., Dalton, J., Mercier, S., Latypova, X., Schmitt, S., Guzman, E., Moore, C., Bier, L., Heinzen, E. L., Karachunski, P., Shur, N., Grebe, T., Basinger, A., Nguyen, J. M., Bézieau, S., Wierenga, K., Bernstein, J. A., Scheffer, I. E., Rosenfeld, J. A., Mefford, H. C., Isidor, B., & Goldstein, D. B.
Affiliations: The Royal Melbourne Hospital (AU)
Centre Hospitalier Universitaire de Nantes (FR)
University of Washington (US)
Northwell Health (US)
Baylor College of Medicine (US)
Columbia University (US)
Stanford Medicine (US)
University of Oklahoma (US)
UNSW Sydney (AU)
The University of Melbourne (AU)
University of Minnesota (US)
Albany Med Health System (US)
Phoenix Children's Hospital (US)
Cook Children's Medical Center (US)
The University of Texas Health Science Center at Houston (US)
Royal Children's Hospital (AU)
Columbia University Irving Medical Center (US)
Corresponding author: Petrovski, Slavé
Goldstein, David B.
ORCID: Petrovski, Slavé
Küry, Sébastien
Myers, Candace T.
Cogné, Benjamin
Xia, Fan
Hemati, Parisa
Riviello, James
Besnard, Thomas
Becraft, Emily
Colombo, Sophie
Zhu, Xiaolin
Ren, Zhong
Schneider, Amy L.
Rosen, Aaron B.I.
Schelley, Susan
Enns, Gregory M.
Corre, Pierre
Mercier, Sandra
Latypova, Xénia
Schmitt, Sébastien
Bier, Louise
Heinzen, Erin L.
Karachunski, Peter
Shur, Natasha
Nguyen, Joanne M.
Wierenga, Klaas
Bernstein, Jonathan A.
Scheffer, Ingrid E.
Rosenfeld, Jill A.
Mefford, Heather C.
Isidor, Bertrand
Goldstein, David B.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2016-05
Volume: 98
Issue: 5
Pages: 1001-1010
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2016.03.011
PMC: PMC4863562
OpenAlex: W2342032633
Cited by: 114
References: 32
Citations by year: 2026: 4 · 2025: 7 · 2024: 11 · 2023: 8 · 2022: 15 · 2021: 14 · 2020: 12 · 2019: 19 · 2018: 8 · 2017: 11 · 2016: 5
FWCI: 11.57
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 188 d)
Locations: The American Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
NOVA (University of Newcastle Australia) (submittedVersion)
Funders: National Human Genome Research Institute (UM1HG006493)
National Institute of Neurological Disorders and Stroke (R01NS069605)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD083091)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: GNB1, de novo mutations, missense mutations, Gβγ, neurodevelopmental disorders, developmental delay, hypotonia, seizures, gain-of-function, undiagnosed genetic disorders
MeSH terms: Adolescent, Adult, Child, Developmental Disabilities, Child, Preschool, Female, Humans, Infant, Male, Intellectual Disability, Muscle Hypotonia, Phenotype, Protein Conformation, Seizures, Signal Transduction, Germ-Line Mutation, GTP-Binding Protein beta Subunits, Young Adult, Exome

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

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