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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980
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
2013
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
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
Titel
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
Ist Teil von
American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2013
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Weaver 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 ∼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. © 2013 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.36229
Titel-ID: cdi_proquest_miscellaneous_1492625344
Format
–
Schlagworte
Abnormalities, Multiple - genetics
,
Abnormalities, Multiple - physiopathology
,
Adolescent
,
Camptodactyly
,
Child
,
Child, Preschool
,
Chromosome Deletion
,
Congenital Hypothyroidism - complications
,
Congenital Hypothyroidism - genetics
,
Congenital Hypothyroidism - physiopathology
,
Craniofacial Abnormalities - complications
,
Craniofacial Abnormalities - genetics
,
Craniofacial Abnormalities - physiopathology
,
Data processing
,
Developmental Disabilities
,
Enhancer of Zeste Homolog 2 Protein
,
EZH2
,
Female
,
Growth Disorders - complications
,
Growth Disorders - genetics
,
Growth Disorders - physiopathology
,
Hand Deformities, Congenital - complications
,
Hand Deformities, Congenital - genetics
,
Hand Deformities, Congenital - physiopathology
,
Hernia
,
histone methyl transferases
,
Histone methyltransferase
,
Humans
,
Intellectual disabilities
,
Intellectual Disability - complications
,
Intellectual Disability - genetics
,
Intellectual Disability - physiopathology
,
Male
,
Missense mutation
,
Mutation
,
Phenotype
,
Phenotypes
,
Polycomb Repressive Complex 2 - genetics
,
Skin
,
Sotos Syndrome - genetics
,
Sotos Syndrome - physiopathology
,
Weaver syndrome
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