Show simple item record

dc.contributor.authorRahman, N
dc.date.accessioned2018-06-13T10:11:18Z
dc.date.issued2013-12
dc.identifierhttp://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36229/abstract;jsessionid=65CA2847B618BBFCE9747EDA22B2AA7F.f04t01
dc.identifier.citationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (12), pp. 2972 - 2980
dc.identifier.issn1552-4825
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1853
dc.description.abstractWeaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in approximate to 80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve. (c) 2013 Wiley Periodicals, Inc.
dc.format.extent2972 - 2980
dc.languageeng
dc.language.isoeng
dc.subjectEZH2 Weaver syndrome histone methyl transferases autosomal-dominant inheritance b-cell lymphomas cervical-spine overgrowth girl neuroblastoma methylation anomalies lysine-27
dc.titleWeaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype
dc.typeJournal Article
rioxxterms.licenseref.startdate2013-12
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfAMERICAN JOURNAL OF MEDICAL GENETICS PART A
pubs.issue12
pubs.notesISI Document Delivery No.: 294IF Times Cited: 0 Cited Reference Count: 40 Tatton-Brown, Katrina Murray, Anne Hanks, Sandra Douglas, Jenny Armstrong, Ruth Banka, Siddharth Bird, Lynne M. Clericuzio, Carol L. Cormier-Daire, Valerie Cushing, Tom Flinter, Frances Jacquemont, Marie-Line Joss, Shelagh Kinning, Esther Lynch, Sally Ann Magee, Alex McConnell, Vivienne Medeira, Ana Ozono, Keiichi Patton, Michael Rankin, Julia Shears, Debbie Simon, Marleen Splitt, Miranda Strenger, Volker Stuurman, Kyra Taylor, Clare Titheradge, Hannah Van Maldergem, Lionel Temple, I. Karen Cole, Trevor Seal, Sheila Rahman, Nazneen Wiley-blackwell Hoboken
pubs.notesNot 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/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/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility
pubs.volume161
pubs.embargo.termsNot known
icr.researchteamGenetic Susceptibilityen_US
dc.contributor.icrauthorTatton Brown, Katrinaen
dc.contributor.icrauthorRahman, Saberaen


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following collection(s)

Show simple item record