dc.contributor.author | Tatton-Brown, K | |
dc.contributor.author | Zachariou, A | |
dc.contributor.author | Loveday, C | |
dc.contributor.author | Renwick, A | |
dc.contributor.author | Mahamdallie, S | |
dc.contributor.author | Aksglaede, L | |
dc.contributor.author | Baralle, D | |
dc.contributor.author | Barge-Schaapveld, D | |
dc.contributor.author | Blyth, M | |
dc.contributor.author | Bouma, M | |
dc.contributor.author | Breckpot, J | |
dc.contributor.author | Crabb, B | |
dc.contributor.author | Dabir, T | |
dc.contributor.author | Cormier-Daire, V | |
dc.contributor.author | Fauth, C | |
dc.contributor.author | Fisher, R | |
dc.contributor.author | Gener, B | |
dc.contributor.author | Goudie, D | |
dc.contributor.author | Homfray, T | |
dc.contributor.author | Hunter, M | |
dc.contributor.author | Jorgensen, A | |
dc.contributor.author | Kant, SG | |
dc.contributor.author | Kirally-Borri, C | |
dc.contributor.author | Koolen, D | |
dc.contributor.author | Kumar, A | |
dc.contributor.author | Labilloy, A | |
dc.contributor.author | Lees, M | |
dc.contributor.author | Marcelis, C | |
dc.contributor.author | Mercer, C | |
dc.contributor.author | Mignot, C | |
dc.contributor.author | Miller, K | |
dc.contributor.author | Neas, K | |
dc.contributor.author | Newbury-Ecob, R | |
dc.contributor.author | Pilz, DT | |
dc.contributor.author | Posmyk, R | |
dc.contributor.author | Prada, C | |
dc.contributor.author | Ramsey, K | |
dc.contributor.author | Randolph, LM | |
dc.contributor.author | Selicorni, A | |
dc.contributor.author | Shears, D | |
dc.contributor.author | Suri, M | |
dc.contributor.author | Temple, IK | |
dc.contributor.author | Turnpenny, P | |
dc.contributor.author | Val Maldergem, L | |
dc.contributor.author | Varghese, V | |
dc.contributor.author | Veenstra-Knol, HE | |
dc.contributor.author | Yachelevich, N | |
dc.contributor.author | Yates, L | |
dc.contributor.author | Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, | |
dc.contributor.author | Deciphering Developmental Disorders (DDD) Study, | |
dc.contributor.author | Rahman, N | |
dc.date.accessioned | 2019-03-04T14:45:17Z | |
dc.date.issued | 2018-01-01 | |
dc.identifier.citation | Wellcome open research, 2018, 3 pp. 46 - ? | |
dc.identifier.issn | 2398-502X | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/3119 | |
dc.identifier.eissn | 2398-502X | |
dc.identifier.doi | 10.12688/wellcomeopenres.14430.1 | |
dc.description.abstract | Tatton-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. | |
dc.format | Electronic-eCollection | |
dc.format.extent | 46 - ? | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | F1000 Research Ltd | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study | |
dc.subject | Deciphering Developmental Disorders (DDD) Study | |
dc.title | The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2018-04-17 | |
rioxxterms.versionofrecord | 10.12688/wellcomeopenres.14430.1 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2018-01 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Wellcome open research | |
pubs.notes | Not known | |
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.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-status | Published | |
pubs.volume | 3 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Medicine Drug Development Unit (de Bono) | |
icr.researchteam | Genetic Susceptibility | |
dc.contributor.icrauthor | Zachariou, Anna | |