UNIVERSI
TÄ
TS-
BIBLIOTHEK
P
ADERBORN
Anmelden
Menü
Menü
Start
Hilfe
Blog
Weitere Dienste
Neuerwerbungslisten
Fachsystematik Bücher
Erwerbungsvorschlag
Bestellung aus dem Magazin
Fernleihe
Einstellungen
Sprache
Deutsch
Deutsch
Englisch
Farbschema
Hell
Dunkel
Automatisch
Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist
gegebenenfalls
nur via VPN oder Shibboleth (DFN-AAI) möglich.
mehr Informationen...
Universitätsbibliothek
Katalog
Suche
Details
Zur Ergebnisliste
Ergebnis 12 von 99
Datensatz exportieren als...
BibTeX
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes
American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2916-2926
Zahir, Farah R.
Tucker, Tracy
Mayo, Sonia
Brown, Carolyn J.
Lim, Emilia L.
Taylor, Jonathan
Marra, Marco A.
Hamdan, Fadi F.
Michaud, Jacques L.
Friedman, Jan M.
2016
Details
Autor(en) / Beteiligte
Zahir, Farah R.
Tucker, Tracy
Mayo, Sonia
Brown, Carolyn J.
Lim, Emilia L.
Taylor, Jonathan
Marra, Marco A.
Hamdan, Fadi F.
Michaud, Jacques L.
Friedman, Jan M.
Titel
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes
Ist Teil von
American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2916-2926
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2016
Link zum Volltext
Quelle
Wiley Backfiles (~2019)
Beschreibungen/Notizen
The disruption of genes involved in epigenetic regulation is well known to cause Intellectual Disability (ID). We reported a custom microarray study that interrogated among others, the epigenetic regulatory gene‐class, at single exon resolution. Here we elaborate on identified intragenic CNVs involving epigenetic regulatory genes; specifically discussing those in three genes previously unreported in ID etiology—ARID2, KDM3A, and ARID4B. The changes in ARID2 and KDM3A are likely pathogenic while the ARID4B variant is uncertain. Previously, we found a CNV involving only exon 6 of the JARID2 gene occurred apparently de novo in seven patients. JARID2 is known to cause ID and other neurodevelopmental conditions. However, exon 6 of this gene encodes one of a series of repeated motifs. We therefore, investigated the impact of this variant in two cohorts and present a genotype–phenotype assessment. We find the JARID2 exon 6 CNV is benign, with a high population frequency (>14%), but nevertheless could have a contributory effect. We also present results from an interrogation of the exomes of 2,044 patients with neurocognitive phenotypes for the incidence of potentially damaging mutation in the epigenetic regulatory gene‐class. This paper provides a survey of the fine‐scale CNV landscape for epigenetic regulatory genes in the context of ID, describing likely pathogenic as well as benign single exon imbalances. © 2016 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.37669
Titel-ID: cdi_proquest_miscellaneous_1837337016
Format
–
Schlagworte
Adolescent
,
ARID1B
,
ARID2
,
ARID4B
,
CHD6
,
CHD7
,
Child
,
Child, Preschool
,
DNA Copy Number Variations
,
DNA Methylation
,
Epigenesis, Genetic
,
epigenetics
,
Exons
,
Female
,
Gene Deletion
,
Gene Duplication
,
Gene Expression Regulation
,
Genetic Association Studies
,
Genotype
,
Humans
,
intellectual disability
,
Intellectual Disability - epidemiology
,
Intellectual Disability - genetics
,
intragenic CNVs
,
JARID2
,
JMJDIC
,
Jumonji Domain-Containing Histone Demethylases - genetics
,
KDM3A
,
Male
,
MEF2C
,
Mutation
,
Phenotype
,
Polycomb Repressive Complex 2 - genetics
,
Population Surveillance
,
UBE2A
Weiterführende Literatur
Empfehlungen zum selben Thema automatisch vorgeschlagen von
bX