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dc.contributor.authorTatton-Brown, Ken_US
dc.contributor.authorZachariou, Aen_US
dc.contributor.authorLoveday, Cen_US
dc.contributor.authorRenwick, Aen_US
dc.contributor.authorMahamdallie, Sen_US
dc.contributor.authorAksglaede, Len_US
dc.contributor.authorBaralle, Den_US
dc.contributor.authorBarge-Schaapveld, Den_US
dc.contributor.authorBlyth, Men_US
dc.contributor.authorBouma, Men_US
dc.contributor.authorBreckpot, Jen_US
dc.contributor.authorCrabb, Ben_US
dc.contributor.authorDabir, Ten_US
dc.contributor.authorCormier-Daire, Ven_US
dc.contributor.authorFauth, Cen_US
dc.contributor.authorFisher, Ren_US
dc.contributor.authorGener, Ben_US
dc.contributor.authorGoudie, Den_US
dc.contributor.authorHomfray, Ten_US
dc.contributor.authorHunter, Men_US
dc.contributor.authorJorgensen, Aen_US
dc.contributor.authorKant, SGen_US
dc.contributor.authorKirally-Borri, Cen_US
dc.contributor.authorKoolen, Den_US
dc.contributor.authorKumar, Aen_US
dc.contributor.authorLabilloy, Aen_US
dc.contributor.authorLees, Men_US
dc.contributor.authorMarcelis, Cen_US
dc.contributor.authorMercer, Cen_US
dc.contributor.authorMignot, Cen_US
dc.contributor.authorMiller, Ken_US
dc.contributor.authorNeas, Ken_US
dc.contributor.authorNewbury-Ecob, Ren_US
dc.contributor.authorPilz, DTen_US
dc.contributor.authorPosmyk, Ren_US
dc.contributor.authorPrada, Cen_US
dc.contributor.authorRamsey, Ken_US
dc.contributor.authorRandolph, LMen_US
dc.contributor.authorSelicorni, Aen_US
dc.contributor.authorShears, Den_US
dc.contributor.authorSuri, Men_US
dc.contributor.authorTemple, IKen_US
dc.contributor.authorTurnpenny, Pen_US
dc.contributor.authorVal Maldergem, Len_US
dc.contributor.authorVarghese, Ven_US
dc.contributor.authorVeenstra-Knol, HEen_US
dc.contributor.authorYachelevich, Nen_US
dc.contributor.authorYates, Len_US
dc.contributor.authorClinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Studyen_US
dc.contributor.authorDeciphering Developmental Disorders (DDD) Studyen_US
dc.contributor.authorRahman, Nen_US
dc.coverage.spatialEnglanden_US
dc.date.accessioned2019-03-04T14:45:17Z
dc.date.issued2018en_US
dc.identifierhttps://www.ncbi.nlm.nih.gov/pubmed/29900417en_US
dc.identifier.citationWellcome Open Res, 2018, 3 pp. 46 - ?en_US
dc.identifier.issn2398-502Xen_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/3119
dc.identifier.doi10.12688/wellcomeopenres.14430.1en_US
dc.description.abstractTatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novoDNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations. Additional frequent clinical associations (reported in 20-80% individuals) included an evolving facial appearance with low-set, heavy, horizontal eyebrows and prominent upper central incisors; joint hypermobility (74%); obesity (weight ³2SD, 67%); hypotonia (54%); behavioural/psychiatric issues (most frequently autistic spectrum disorder, 51%); kyphoscoliosis (33%) and afebrile seizures (22%). One individual was diagnosed with acute myeloid leukaemia in teenage years. Based upon the results from this study, we present our current management for individuals with TBRS.en_US
dc.format.extent46 - ?en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.subjectDNMT3Aen_US
dc.subjectTatton-Brown-Rahmanen_US
dc.subjectintellectual disabilityen_US
dc.subjectovergrowthen_US
dc.titleThe Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.en_US
dc.typeJournal Article
dcterms.dateAccepted2018-04-17en_US
rioxxterms.versionofrecord10.12688/wellcomeopenres.14430.1en_US
rioxxterms.licenseref.startdate2018en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfWellcome Open Resen_US
pubs.notesNot knownen_US
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics/Medicine Drug Development Unit (de Bono)
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Clinical Studies
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Clinical Studies/Medicine Drug Development Unit (de Bono)
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility
pubs.publication-statusPublished onlineen_US
pubs.volume3en_US
pubs.embargo.termsNot knownen_US
icr.researchteamMedicine Drug Development Unit (de Bono)en_US
icr.researchteamGenetic Susceptibilityen_US
dc.contributor.icrauthorZachariou, Annaen_US
dc.contributor.icrauthorRahman, Saberaen_US


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