Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Identifieur interne : 001E38 ( PubMed/Curation ); précédent : 001E37; suivant : 001E39Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Auteurs : Slavé Petrovski [Australie] ; Sébastien Küry [France] ; Candace T. Myers [États-Unis] ; Kwame Anyane-Yeboa [États-Unis] ; Benjamin Cogné [France] ; Martin Bialer [États-Unis] ; Fan Xia [États-Unis] ; Parisa Hemati [États-Unis] ; James Riviello [États-Unis] ; Michele Mehaffey [États-Unis] ; Thomas Besnard [France] ; Emily Becraft [États-Unis] ; Alexandrea Wadley [États-Unis] ; Anya Revah Politi [États-Unis] ; Sophie Colombo [États-Unis] ; Xiaolin Zhu [États-Unis] ; Zhong Ren [États-Unis] ; Ian Andrews [Australie] ; Tracy Dudding-Byth [Australie] ; Amy L. Schneider [Australie] ; Geoffrey Wallace [Australie] ; Aaron B I. Rosen [États-Unis] ; Susan Schelley [États-Unis] ; Gregory M. Enns [États-Unis] ; Pierre Corre [France] ; Joline Dalton [États-Unis] ; Sandra Mercier [France] ; Xénia Latypova [France] ; Sébastien Schmitt [France] ; Edwin Guzman [États-Unis] ; Christine Moore [États-Unis] ; Louise Bier [États-Unis] ; Erin L. Heinzen [États-Unis] ; Peter Karachunski [États-Unis] ; Natasha Shur [États-Unis] ; Theresa Grebe [États-Unis] ; Alice Basinger [États-Unis] ; Joanne M. Nguyen [États-Unis] ; Stéphane Bézieau [France] ; Klaas Wierenga [États-Unis] ; Jonathan A. Bernstein [États-Unis] ; Ingrid E. Scheffer [Australie] ; Jill A. Rosenfeld [États-Unis] ; Heather C. Mefford [États-Unis] ; Bertrand Isidor [France] ; David B. Goldstein [États-Unis]Source :
- American journal of human genetics [ 1537-6605 ] ; 2016.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Conformation des protéines, Crises épileptiques (anatomopathologie), Crises épileptiques (étiologie), Déficience intellectuelle (anatomopathologie), Déficience intellectuelle (étiologie), Enfant, Enfant d'âge préscolaire, Exome (génétique), Femelle, Humains, Hypotonie musculaire (anatomopathologie), Hypotonie musculaire (étiologie), Incapacités de développement (anatomopathologie), Incapacités de développement (étiologie), Jeune adulte, Mutation germinale (génétique), Mâle, Nourrisson, Phénotype, Sous-unités bêta des protéines G (), Sous-unités bêta des protéines G (génétique), Transduction du signal.
- MESH :
- anatomopathologie : Crises épileptiques, Déficience intellectuelle, Hypotonie musculaire, Incapacités de développement.
- génétique : Exome, Mutation germinale, Sous-unités bêta des protéines G.
- étiologie : Crises épileptiques, Déficience intellectuelle, Hypotonie musculaire, Incapacités de développement.
- Adolescent, Adulte, Conformation des protéines, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Jeune adulte, Mâle, Nourrisson, Phénotype, Sous-unités bêta des protéines G, Transduction du signal.
English descriptors
- KwdEn :
- Adolescent, Adult, Child, Child, Preschool, Developmental Disabilities (etiology), Developmental Disabilities (pathology), Exome (genetics), Female, GTP-Binding Protein beta Subunits (chemistry), GTP-Binding Protein beta Subunits (genetics), Germ-Line Mutation (genetics), Humans, Infant, Intellectual Disability (etiology), Intellectual Disability (pathology), Male, Muscle Hypotonia (etiology), Muscle Hypotonia (pathology), Phenotype, Protein Conformation, Seizures (etiology), Seizures (pathology), Signal Transduction, Young Adult.
- MESH :
- chemical , chemistry : GTP-Binding Protein beta Subunits.
- etiology : Developmental Disabilities, Intellectual Disability, Muscle Hypotonia, Seizures.
- genetics : Exome, GTP-Binding Protein beta Subunits, Germ-Line Mutation.
- pathology : Developmental Disabilities, Intellectual Disability, Muscle Hypotonia, Seizures.
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Male, Phenotype, Protein Conformation, Signal Transduction, Young Adult.
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.
DOI: 10.1016/j.ajhg.2016.03.011
PubMed: 27108799
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<author><name sortKey="Rosen, Aaron B I" sort="Rosen, Aaron B I" uniqKey="Rosen A" first="Aaron B I" last="Rosen">Aaron B I. Rosen</name>
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<author><name sortKey="Schelley, Susan" sort="Schelley, Susan" uniqKey="Schelley S" first="Susan" last="Schelley">Susan Schelley</name>
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<author><name sortKey="Enns, Gregory M" sort="Enns, Gregory M" uniqKey="Enns G" first="Gregory M" last="Enns">Gregory M. Enns</name>
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<author><name sortKey="Corre, Pierre" sort="Corre, Pierre" uniqKey="Corre P" first="Pierre" last="Corre">Pierre Corre</name>
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<author><name sortKey="Dalton, Joline" sort="Dalton, Joline" uniqKey="Dalton J" first="Joline" last="Dalton">Joline Dalton</name>
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<author><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name>
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<author><name sortKey="Latypova, Xenia" sort="Latypova, Xenia" uniqKey="Latypova X" first="Xénia" last="Latypova">Xénia Latypova</name>
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<author><name sortKey="Schmitt, Sebastien" sort="Schmitt, Sebastien" uniqKey="Schmitt S" first="Sébastien" last="Schmitt">Sébastien Schmitt</name>
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<author><name sortKey="Guzman, Edwin" sort="Guzman, Edwin" uniqKey="Guzman E" first="Edwin" last="Guzman">Edwin Guzman</name>
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<author><name sortKey="Moore, Christine" sort="Moore, Christine" uniqKey="Moore C" first="Christine" last="Moore">Christine Moore</name>
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<author><name sortKey="Bier, Louise" sort="Bier, Louise" uniqKey="Bier L" first="Louise" last="Bier">Louise Bier</name>
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<author><name sortKey="Heinzen, Erin L" sort="Heinzen, Erin L" uniqKey="Heinzen E" first="Erin L" last="Heinzen">Erin L. Heinzen</name>
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<author><name sortKey="Karachunski, Peter" sort="Karachunski, Peter" uniqKey="Karachunski P" first="Peter" last="Karachunski">Peter Karachunski</name>
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<wicri:regionArea>Department of Neurology, University of Minnesota, Minneapolis, MN 55454</wicri:regionArea>
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<author><name sortKey="Shur, Natasha" sort="Shur, Natasha" uniqKey="Shur N" first="Natasha" last="Shur">Natasha Shur</name>
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<author><name sortKey="Grebe, Theresa" sort="Grebe, Theresa" uniqKey="Grebe T" first="Theresa" last="Grebe">Theresa Grebe</name>
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<author><name sortKey="Basinger, Alice" sort="Basinger, Alice" uniqKey="Basinger A" first="Alice" last="Basinger">Alice Basinger</name>
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<author><name sortKey="Nguyen, Joanne M" sort="Nguyen, Joanne M" uniqKey="Nguyen J" first="Joanne M" last="Nguyen">Joanne M. Nguyen</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030</wicri:regionArea>
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<author><name sortKey="Bezieau, Stephane" sort="Bezieau, Stephane" uniqKey="Bezieau S" first="Stéphane" last="Bézieau">Stéphane Bézieau</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wierenga, Klaas" sort="Wierenga, Klaas" uniqKey="Wierenga K" first="Klaas" last="Wierenga">Klaas Wierenga</name>
<affiliation wicri:level="1"><nlm:affiliation>Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bernstein, Jonathan A" sort="Bernstein, Jonathan A" uniqKey="Bernstein J" first="Jonathan A" last="Bernstein">Jonathan A. Bernstein</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia; Florey Institute for Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3050, Australia; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, VIC 3050, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia; Florey Institute for Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3050, Australia; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, VIC 3050</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A" last="Rosenfeld">Jill A. Rosenfeld</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C" last="Mefford">Heather C. Mefford</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B" last="Goldstein">David B. Goldstein</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA. Electronic address: dg2875@cumc.columbia.edu.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2016">2016</date>
<idno type="RBID">pubmed:27108799</idno>
<idno type="pmid">27108799</idno>
<idno type="doi">10.1016/j.ajhg.2016.03.011</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.</title>
<author><name sortKey="Petrovski, Slave" sort="Petrovski, Slave" uniqKey="Petrovski S" first="Slavé" last="Petrovski">Slavé Petrovski</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3050, Australia. Electronic address: slavep@unimelb.edu.au.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3050</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kury, Sebastien" sort="Kury, Sebastien" uniqKey="Kury S" first="Sébastien" last="Küry">Sébastien Küry</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T" last="Myers">Candace T. Myers</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Anyane Yeboa, Kwame" sort="Anyane Yeboa, Kwame" uniqKey="Anyane Yeboa K" first="Kwame" last="Anyane-Yeboa">Kwame Anyane-Yeboa</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cogne, Benjamin" sort="Cogne, Benjamin" uniqKey="Cogne B" first="Benjamin" last="Cogné">Benjamin Cogné</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bialer, Martin" sort="Bialer, Martin" uniqKey="Bialer M" first="Martin" last="Bialer">Martin Bialer</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Northwell Health, Manhasset, NY 11030, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Northwell Health, Manhasset, NY 11030</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Xia, Fan" sort="Xia, Fan" uniqKey="Xia F" first="Fan" last="Xia">Fan Xia</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hemati, Parisa" sort="Hemati, Parisa" uniqKey="Hemati P" first="Parisa" last="Hemati">Parisa Hemati</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Riviello, James" sort="Riviello, James" uniqKey="Riviello J" first="James" last="Riviello">James Riviello</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mehaffey, Michele" sort="Mehaffey, Michele" uniqKey="Mehaffey M" first="Michele" last="Mehaffey">Michele Mehaffey</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Besnard, Thomas" sort="Besnard, Thomas" uniqKey="Besnard T" first="Thomas" last="Besnard">Thomas Besnard</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Becraft, Emily" sort="Becraft, Emily" uniqKey="Becraft E" first="Emily" last="Becraft">Emily Becraft</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wadley, Alexandrea" sort="Wadley, Alexandrea" uniqKey="Wadley A" first="Alexandrea" last="Wadley">Alexandrea Wadley</name>
<affiliation wicri:level="1"><nlm:affiliation>Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Politi, Anya Revah" sort="Politi, Anya Revah" uniqKey="Politi A" first="Anya Revah" last="Politi">Anya Revah Politi</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Colombo, Sophie" sort="Colombo, Sophie" uniqKey="Colombo S" first="Sophie" last="Colombo">Sophie Colombo</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zhu, Xiaolin" sort="Zhu, Xiaolin" uniqKey="Zhu X" first="Xiaolin" last="Zhu">Xiaolin Zhu</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ren, Zhong" sort="Ren, Zhong" uniqKey="Ren Z" first="Zhong" last="Ren">Zhong Ren</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Andrews, Ian" sort="Andrews, Ian" uniqKey="Andrews I" first="Ian" last="Andrews">Ian Andrews</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Women's and Children's Health, University of New South Wales, Kensington, NSW 2052, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Women's and Children's Health, University of New South Wales, Kensington, NSW 2052</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dudding Byth, Tracy" sort="Dudding Byth, Tracy" uniqKey="Dudding Byth T" first="Tracy" last="Dudding-Byth">Tracy Dudding-Byth</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; Priority Research Centre GrowUpWell, University of Newcastle, Callaghan, NSW 2308, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; Priority Research Centre GrowUpWell, University of Newcastle, Callaghan, NSW 2308</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schneider, Amy L" sort="Schneider, Amy L" uniqKey="Schneider A" first="Amy L" last="Schneider">Amy L. Schneider</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wallace, Geoffrey" sort="Wallace, Geoffrey" uniqKey="Wallace G" first="Geoffrey" last="Wallace">Geoffrey Wallace</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, Royal Children's Hospital, Herston School of Medicine, University of Queensland, Brisbane, QLD 4072, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurosciences, Royal Children's Hospital, Herston School of Medicine, University of Queensland, Brisbane, QLD 4072</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rosen, Aaron B I" sort="Rosen, Aaron B I" uniqKey="Rosen A" first="Aaron B I" last="Rosen">Aaron B I. Rosen</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schelley, Susan" sort="Schelley, Susan" uniqKey="Schelley S" first="Susan" last="Schelley">Susan Schelley</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Enns, Gregory M" sort="Enns, Gregory M" uniqKey="Enns G" first="Gregory M" last="Enns">Gregory M. Enns</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Corre, Pierre" sort="Corre, Pierre" uniqKey="Corre P" first="Pierre" last="Corre">Pierre Corre</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Stomatologie, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Stomatologie, Centre Hospitalier Universitaire Nantes, Nantes 44093</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dalton, Joline" sort="Dalton, Joline" uniqKey="Dalton J" first="Joline" last="Dalton">Joline Dalton</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Minnesota, Minneapolis, MN 55454, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Minnesota, Minneapolis, MN 55454</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Latypova, Xenia" sort="Latypova, Xenia" uniqKey="Latypova X" first="Xénia" last="Latypova">Xénia Latypova</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schmitt, Sebastien" sort="Schmitt, Sebastien" uniqKey="Schmitt S" first="Sébastien" last="Schmitt">Sébastien Schmitt</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Guzman, Edwin" sort="Guzman, Edwin" uniqKey="Guzman E" first="Edwin" last="Guzman">Edwin Guzman</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Moore, Christine" sort="Moore, Christine" uniqKey="Moore C" first="Christine" last="Moore">Christine Moore</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Northwell Health, Manhasset, NY 11030, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Northwell Health, Manhasset, NY 11030</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bier, Louise" sort="Bier, Louise" uniqKey="Bier L" first="Louise" last="Bier">Louise Bier</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Heinzen, Erin L" sort="Heinzen, Erin L" uniqKey="Heinzen E" first="Erin L" last="Heinzen">Erin L. Heinzen</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Institute for Genomic Medicine, Columbia University, New York, NY 10032</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Karachunski, Peter" sort="Karachunski, Peter" uniqKey="Karachunski P" first="Peter" last="Karachunski">Peter Karachunski</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Minnesota, Minneapolis, MN 55454, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Minnesota, Minneapolis, MN 55454</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Shur, Natasha" sort="Shur, Natasha" uniqKey="Shur N" first="Natasha" last="Shur">Natasha Shur</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Genetics, Department of Pediatrics, Albany Medical Center, Albany, NY 12208, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics, Department of Pediatrics, Albany Medical Center, Albany, NY 12208</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Grebe, Theresa" sort="Grebe, Theresa" uniqKey="Grebe T" first="Theresa" last="Grebe">Theresa Grebe</name>
<affiliation wicri:level="1"><nlm:affiliation>Phoenix Children's Hospital and Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85724, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Phoenix Children's Hospital and Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85724</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Basinger, Alice" sort="Basinger, Alice" uniqKey="Basinger A" first="Alice" last="Basinger">Alice Basinger</name>
<affiliation wicri:level="1"><nlm:affiliation>Cook Children's Physician Network, Fort Worth, TX 76102, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Cook Children's Physician Network, Fort Worth, TX 76102</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nguyen, Joanne M" sort="Nguyen, Joanne M" uniqKey="Nguyen J" first="Joanne M" last="Nguyen">Joanne M. Nguyen</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bezieau, Stephane" sort="Bezieau, Stephane" uniqKey="Bezieau S" first="Stéphane" last="Bézieau">Stéphane Bézieau</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wierenga, Klaas" sort="Wierenga, Klaas" uniqKey="Wierenga K" first="Klaas" last="Wierenga">Klaas Wierenga</name>
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<author><name sortKey="Bernstein, Jonathan A" sort="Bernstein, Jonathan A" uniqKey="Bernstein J" first="Jonathan A" last="Bernstein">Jonathan A. Bernstein</name>
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<series><title level="j">American journal of human genetics</title>
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<term>GTP-Binding Protein beta Subunits (chemistry)</term>
<term>GTP-Binding Protein beta Subunits (genetics)</term>
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<term>Adulte</term>
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<term>Crises épileptiques (étiologie)</term>
<term>Déficience intellectuelle (anatomopathologie)</term>
<term>Déficience intellectuelle (étiologie)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
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<term>Humains</term>
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<front><div type="abstract" xml:lang="en">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.</div>
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<DateCreated><Year>2016</Year>
<Month>05</Month>
<Day>07</Day>
</DateCreated>
<DateCompleted><Year>2017</Year>
<Month>05</Month>
<Day>15</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>09</Month>
<Day>01</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>98</Volume>
<Issue>5</Issue>
<PubDate><Year>2016</Year>
<Month>May</Month>
<Day>05</Day>
</PubDate>
</JournalIssue>
<Title>American journal of human genetics</Title>
<ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.</ArticleTitle>
<Pagination><MedlinePgn>1001-1010</MedlinePgn>
</Pagination>
<ELocationID EIdType="pii" ValidYN="Y">S0002-9297(16)30046-5</ELocationID>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2016.03.011</ELocationID>
<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
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<Initials>S</Initials>
<AffiliationInfo><Affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3050, Australia. Electronic address: slavep@unimelb.edu.au.</Affiliation>
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<Initials>S</Initials>
<AffiliationInfo><Affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</Affiliation>
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<ForeName>Candace T</ForeName>
<Initials>CT</Initials>
<AffiliationInfo><Affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA.</Affiliation>
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<Initials>K</Initials>
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<ForeName>Benjamin</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</Affiliation>
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<Initials>M</Initials>
<AffiliationInfo><Affiliation>Division of Medical Genetics, Northwell Health, Manhasset, NY 11030, USA.</Affiliation>
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<ForeName>Fan</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</Affiliation>
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<Initials>P</Initials>
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<Initials>J</Initials>
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<Initials>M</Initials>
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<ForeName>Thomas</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Becraft</LastName>
<ForeName>Emily</ForeName>
<Initials>E</Initials>
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<Author ValidYN="Y"><LastName>Wadley</LastName>
<ForeName>Alexandrea</ForeName>
<Initials>A</Initials>
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</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Politi</LastName>
<ForeName>Anya Revah</ForeName>
<Initials>AR</Initials>
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<Author ValidYN="Y"><LastName>Colombo</LastName>
<ForeName>Sophie</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</Affiliation>
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<Author ValidYN="Y"><LastName>Zhu</LastName>
<ForeName>Xiaolin</ForeName>
<Initials>X</Initials>
<AffiliationInfo><Affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</Affiliation>
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<ForeName>Zhong</ForeName>
<Initials>Z</Initials>
<AffiliationInfo><Affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</Affiliation>
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<ForeName>Ian</ForeName>
<Initials>I</Initials>
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</AffiliationInfo>
</Author>
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<ForeName>Tracy</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; Priority Research Centre GrowUpWell, University of Newcastle, Callaghan, NSW 2308, Australia.</Affiliation>
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</Author>
<Author ValidYN="Y"><LastName>Schneider</LastName>
<ForeName>Amy L</ForeName>
<Initials>AL</Initials>
<AffiliationInfo><Affiliation>Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia.</Affiliation>
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</Author>
<Author ValidYN="Y"><LastName>Wallace</LastName>
<ForeName>Geoffrey</ForeName>
<Initials>G</Initials>
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</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Rosen</LastName>
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<Author ValidYN="Y"><LastName>Schelley</LastName>
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<ForeName>Pierre</ForeName>
<Initials>P</Initials>
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<Initials>J</Initials>
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<Initials>S</Initials>
<AffiliationInfo><Affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</Affiliation>
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<Initials>X</Initials>
<AffiliationInfo><Affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</Affiliation>
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<Initials>S</Initials>
<AffiliationInfo><Affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</Affiliation>
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<Initials>E</Initials>
<AffiliationInfo><Affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</Affiliation>
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<ForeName>Christine</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Division of Medical Genetics, Northwell Health, Manhasset, NY 11030, USA.</Affiliation>
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<AffiliationInfo><Affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</Affiliation>
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<ForeName>Erin L</ForeName>
<Initials>EL</Initials>
<AffiliationInfo><Affiliation>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.</Affiliation>
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<Initials>P</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, University of Minnesota, Minneapolis, MN 55454, USA.</Affiliation>
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<ForeName>Natasha</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Division of Genetics, Department of Pediatrics, Albany Medical Center, Albany, NY 12208, USA.</Affiliation>
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<Author ValidYN="Y"><LastName>Grebe</LastName>
<ForeName>Theresa</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Phoenix Children's Hospital and Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85724, USA.</Affiliation>
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<ForeName>Alice</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Cook Children's Physician Network, Fort Worth, TX 76102, USA.</Affiliation>
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<Author ValidYN="Y"><LastName>Nguyen</LastName>
<ForeName>Joanne M</ForeName>
<Initials>JM</Initials>
<AffiliationInfo><Affiliation>Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.</Affiliation>
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<ForeName>Stéphane</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</Affiliation>
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<ForeName>Klaas</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019, USA.</Affiliation>
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<ForeName>Jonathan A</ForeName>
<Initials>JA</Initials>
<AffiliationInfo><Affiliation>Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.</Affiliation>
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</Author>
<Author ValidYN="Y"><LastName>Scheffer</LastName>
<ForeName>Ingrid E</ForeName>
<Initials>IE</Initials>
<AffiliationInfo><Affiliation>Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia; Florey Institute for Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3050, Australia; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, VIC 3050, Australia.</Affiliation>
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</Author>
<Author ValidYN="Y"><LastName>Rosenfeld</LastName>
<ForeName>Jill A</ForeName>
<Initials>JA</Initials>
<AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</Affiliation>
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<ForeName>Heather C</ForeName>
<Initials>HC</Initials>
<AffiliationInfo><Affiliation>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA.</Affiliation>
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<ForeName>Bertrand</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France.</Affiliation>
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<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
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<MeshHeading><DescriptorName UI="D009123" MajorTopicYN="N">Muscle Hypotonia</DescriptorName>
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