Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/18775
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dc.contributor.authorGregor, Anne-
dc.contributor.authorSadleir, Lynette G-
dc.contributor.authorAsadollahi, Reza-
dc.contributor.authorAzzarello-Burri, Silvia-
dc.contributor.authorBattaglia, Agatino-
dc.contributor.authorOusager, Lilian Bomme-
dc.contributor.authorBoonsawat, Paranchai-
dc.contributor.authorBruel, Ange-Line-
dc.contributor.authorBuchert, Rebecca-
dc.contributor.authorCalpena, Eduardo-
dc.contributor.authorCogné, Benjamin-
dc.contributor.authorDallapiccola, Bruno-
dc.contributor.authorDistelmaier, Felix-
dc.contributor.authorElmslie, Frances-
dc.contributor.authorFaivre, Laurence-
dc.contributor.authorHaack, Tobias B-
dc.contributor.authorHarrison, Victoria-
dc.contributor.authorHenderson, Alex-
dc.contributor.authorHunt, David-
dc.contributor.authorIsidor, Bertrand-
dc.contributor.authorJoset, Pascal-
dc.contributor.authorKumada, Satoko-
dc.contributor.authorLachmeijer, Augusta M A-
dc.contributor.authorLees, Melissa-
dc.contributor.authorLynch, Sally Ann-
dc.contributor.authorMartinez, Francisco-
dc.contributor.authorMatsumoto, Naomichi-
dc.contributor.authorMcDougall, Carey-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorMiyake, Noriko-
dc.contributor.authorMyers, Candace T-
dc.contributor.authorMoutton, Sébastien-
dc.contributor.authorNesbitt, Addie-
dc.contributor.authorNovelli, Antonio-
dc.contributor.authorOrellana, Carmen-
dc.contributor.authorRauch, Anita-
dc.contributor.authorRosello, Monica-
dc.contributor.authorSaida, Ken-
dc.contributor.authorSantani, Avni B-
dc.contributor.authorSarkar, Ajoy-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorShinawi, Marwan-
dc.contributor.authorSteindl, Katharina-
dc.contributor.authorSymonds, Joseph D-
dc.contributor.authorZackai, Elaine H-
dc.contributor.authorReis, André-
dc.contributor.authorSticht, Heinrich-
dc.contributor.authorZweier, Christiane-
dc.date2018-07-26-
dc.date.accessioned2018-08-31T06:07:03Z-
dc.date.available2018-08-31T06:07:03Z-
dc.date.issued2018-08-02-
dc.identifier.citationAmerican journal of human genetics 2018; 103(2): 305-316-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/18775-
dc.description.abstractNext-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically extremely heterogeneous entities such as neurodevelopmental disorders (NDDs). Through exome sequencing and world-wide collaborations, we identified and assembled 20 individuals with de novo variants in FBXO11. They present with mild to severe developmental delay associated with a range of features including short (4/20) or tall (2/20) stature, obesity (5/20), microcephaly (4/19) or macrocephaly (2/19), behavioral problems (17/20), seizures (5/20), cleft lip or palate or bifid uvula (3/20), and minor skeletal anomalies. FBXO11 encodes a member of the F-Box protein family, constituting a subunit of an E3-ubiquitin ligase complex. This complex is involved in ubiquitination and proteasomal degradation and thus in controlling critical biological processes by regulating protein turnover. The identified de novo aberrations comprise two large deletions, ten likely gene disrupting variants, and eight missense variants distributed throughout FBXO11. Structural modeling for missense variants located in the CASH or the Zinc-finger UBR domains suggests destabilization of the protein. This, in combination with the observed spectrum and localization of identified variants and the lack of apparent genotype-phenotype correlations, is compatible with loss of function or haploinsufficiency as an underlying mechanism. We implicate de novo missense and likely gene disrupting variants in FBXO11 in a neurodevelopmental disorder with variable intellectual disability and various other features.-
dc.language.isoeng-
dc.subjectFBXO11-
dc.subjectintellectual disability-
dc.subjectneurodevelopmental disorder-
dc.titleDe Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.-
dc.typeJournal Article-
dc.identifier.journaltitleAmerican journal of human genetics-
dc.identifier.affiliationInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany-
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand-
dc.identifier.affiliationStella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, 56128 Calambrone, Pisa, Italy-
dc.identifier.affiliationDepartment of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark-
dc.identifier.affiliationInstitute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland-
dc.identifier.affiliationradiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich," 8032 Zurich, Switzerland-
dc.identifier.affiliationINSERM U1231, LNC UMR1231 GAD, Burgundy University, 21079 Dijon, France-
dc.identifier.affiliationInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany-
dc.identifier.affiliationClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK-
dc.identifier.affiliationDepartment of Medical Genetics, CHU Nantes, 44093 Nantes, France-
dc.identifier.affiliationl'Institut du Thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France-
dc.identifier.affiliationDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Düsseldorf, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany-
dc.identifier.affiliationSouth West Thames Regional Genetics Service, St. George's, University of London, London SW17 0RE, UK-
dc.identifier.affiliationWessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK-
dc.identifier.affiliationNorthern Genetics Service, Newcastle upon Tyne Hospitals, Newcastle upon Tyne NE1 3BZ, UK-
dc.identifier.affiliationDepartment of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo 183-0042, Japan-
dc.identifier.affiliationDepartment of Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, the Netherlands-
dc.identifier.affiliationNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London WC1N 3JH, UK-
dc.identifier.affiliationDept of Clinical Genetics, Temple Street Children's Hospital Dublin 1, D12 V004 Dublin, Ireland-
dc.identifier.affiliationUnidad de Genética, Hospital Universitario y Politécnico La Fe, Avda Fernando Abril Martorell 106, 46026 Valencia, Spain-
dc.identifier.affiliationDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA-
dc.identifier.affiliationDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan-
dc.identifier.affiliationDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA-
dc.identifier.affiliationReference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 21000 Dijon, France-
dc.identifier.affiliationDivision of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA-
dc.identifier.affiliationGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy-
dc.identifier.affiliationDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA-
dc.identifier.affiliationNottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK-
dc.identifier.affiliationDepartments of Medicine and Paediatrics,Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia-
dc.identifier.affiliationDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA-
dc.identifier.affiliationPaediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Children, Glasgow G51 4TF, UK-
dc.identifier.affiliationWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK-
dc.identifier.affiliationInstitute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany-
dc.identifier.affiliationDepartment of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia-
dc.identifier.doi10.1016/j.ajhg.2018.07.003-
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.pubmedid30057029-
dc.type.austinJournal Article-
local.name.researcherScheffer, Ingrid E
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptEpilepsy Research Centre-
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