Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Parental origin and functional relevance of a de novo UBE3A variant.

European journal of medical genetics - 1 Jan 2000

Horsthemke Bernhard, Wawrzik Michaela, Gross Stephanie, Lich Christina, Sauer Birgitta, Rost Imma, Krasemann Ernst, Kosyakova Nadezda, Liehr Thomas, Weise Anja, Dybowski J Nikolaj, Hoffmann Daniel, Wieczorek Dagmar

Abstract excerpt

Sequence analysis of the imprinted UBE3A gene in a 3-year-old girl suspected of having Angelman syndrome had revealed a de novo 3bp in frame deletion predicted to encode a protein lacking the amino acid G538 (based on sequence NM_130838). In order to assess the clinical relevance of this unknown variant, we determined the parental origin and the functional consequences of the deletion. We separated the two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Angelman Syndrome
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 15

Share to Crystallography, X-Ray

Share to Family Health

Share to Parents

Share to Sequence Deletion

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 20933619
DOI: 10.1016/j.ejmg.2010.09.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Parental origin and functional relevance of a de novo UBE3A variant.PMID 20933619Read ↗

Mutation Update for UBE3A variants in Angelman syndrome.Semantic proximity Read ↗

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.Semantic proximity Read ↗

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.Semantic proximity Read ↗

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.Semantic proximity Read ↗

Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.Semantic proximity Read ↗

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.Semantic proximity Read ↗

The spectrum of mutations in UBE3A causing Angelman syndrome.Semantic proximity Read ↗

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.Semantic proximity Read ↗

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.Semantic proximity Read ↗

UBE3A/E6-AP mutations cause Angelman syndrome.Semantic proximity Read ↗

Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.Semantic proximity Read ↗

Germline mosaicism of a novel UBE3A mutation in Angelman syndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.