Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12654
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dc.contributor.authorvan Bon, B W Men
dc.contributor.authorCoe, B Pen
dc.contributor.authorBernier, Ren
dc.contributor.authorGreen, Cen
dc.contributor.authorGerdts, Jen
dc.contributor.authorWitherspoon, Ken
dc.contributor.authorKleefstra, Ten
dc.contributor.authorWillemsen, M Hen
dc.contributor.authorKumar, Ren
dc.contributor.authorBosco, Pen
dc.contributor.authorFichera, Men
dc.contributor.authorLi, Den
dc.contributor.authorAmaral, Den
dc.contributor.authorCristofoli, Fen
dc.contributor.authorPeeters, Hen
dc.contributor.authorHaan, Een
dc.contributor.authorRomano, Cen
dc.contributor.authorMefford, Heather Cen
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorGecz, Jozefen
dc.contributor.authorde Vries, Bert B Aen
dc.contributor.authorEichler, E Een
dc.date2015-02-24-
dc.date.accessioned2015-05-16T02:22:51Z-
dc.date.available2015-05-16T02:22:51Z-
dc.date.issued2016en
dc.identifier.citationMolecular Psychiatry 2015; 21(1): 126-132en
dc.identifier.govdoc25707398en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/12654en
dc.description.abstractDual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a major role in the neurocognitive deficits associated with Trisomy 21. Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (ASD) suggests a different pathology associated with loss-of-function mutations. To understand the phenotypic spectrum associated with DYRK1A mutations, we resequenced the gene in 7162 ASD/DD patients (2446 previously reported) and 2169 unaffected siblings and performed a detailed phenotypic assessment on nine patients. Comparison of our data and published cases with 8696 controls identified a significant enrichment of DYRK1A truncating mutations (P=0.00851) and an excess of de novo mutations (P=2.53 × 10(-10)) among ASD/intellectual disability (ID) patients. Phenotypic comparison of all novel (n=5) and recontacted (n=3) cases with previous case reports, including larger CNV and translocation events (n=7), identified a syndromal disorder among the 15 patients. It was characterized by ID, ASD, microcephaly, intrauterine growth retardation, febrile seizures in infancy, impaired speech, stereotypic behavior, hypertonia and a specific facial gestalt. We conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental defects consistent with murine and Drosophila knockout models.en
dc.language.isoenen
dc.titleDisruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDen
dc.typeJournal Articleen
dc.identifier.journaltitleMolecular psychiatryen
dc.identifier.affiliationHoward Hughes Medical Institute, University of Washington, Seattle, WA, USAen
dc.identifier.affiliationDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlandsen
dc.identifier.affiliationSchool of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australiaen
dc.identifier.affiliationDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USAen
dc.identifier.affiliationDepartment of Psychiatry, University of Washington, Seattle, WA, USAen
dc.identifier.affiliationFlorey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationI.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italyen
dc.identifier.affiliationMedical Genetics, University of Catania, Catania, Italyen
dc.identifier.affiliationRepresenting the Autism Phenome Project, MIND Institute, University of California-Davis, Sacramento, CA, USAen
dc.identifier.affiliationCenter for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgiumen
dc.identifier.affiliationLeuven Autism Research (LAuRes), Leuven, Belgiumen
dc.identifier.affiliationSouth Australian Clinical Genetics Service, SA Pathology, Adelaide, South Australia, Australiaen
dc.identifier.affiliationRobinson Institute, University of Adelaide, Adelaide, South Australia, Australiaen
dc.identifier.affiliationDonders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlandsen
dc.identifier.doi10.1038/mp.2015.5en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/25707398en
dc.identifier.orcid0000-0002-2311-2174-
dc.identifier.orcid0000-0002-7884-6861-
dc.type.austinJournal Articleen
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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