Evidence map›Paper›PMID 35929060›Full record

ArticleMolecular genetics & genomic medicine2022

Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.

Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I Quigley, Kathleen Angkustsiri, Suma P Shankar

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 28% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 3 institutions in 1 country.

Ruchi PunatarDivision of Developmental Behavioral Pediatrics, Department of Pediatrics, University of California Davis, Sacramento, California, USA.ORCID 0000-0003-0247-3322
Alena EgenseMIND Institute, University of California Davis, Sacramento, California, USA.
Rong MaoARUP Laboratories, Salt Lake City, Utah, USA.
Melinda ProcterARUP Laboratories, Salt Lake City, Utah, USA.
Michelle BosworthARUP Laboratories, Salt Lake City, Utah, USA.
Denise I QuigleyARUP Laboratories, Salt Lake City, Utah, USA.
Kathleen AngkustsiriDivision of Developmental Behavioral Pediatrics, Department of Pediatrics, University of California Davis, Sacramento, California, USA.
Suma P ShankarMIND Institute, University of California Davis, Sacramento, California, USA.ORCID 0000-0001-7100-5691
University of California Davis Medical Center · USARUP Laboratories (United States) · USUniversity of Utah · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAngelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited UBE3A gene. Individuals with AS typically have significant developmental delay, severe speech impairment with absent to minimal verbal language, gait abnormalities including ataxia, and an incongruous happy demeanor. The majority of individuals with AS also have seizures and microcephaly. Some individuals with mosaic AS have been reported to have expressive language and milder levels of developmental delay. CASE REPORT: We report a male patient presenting with mild to moderate intellectual disability, hyperphagia, obesity, and the ability to communicate verbally. His phenotype was suggestive of Prader-Willi syndrome. However, methylation testing was positive for Angelman syndrome and additional methylation specific multiplex ligation-dependent amplification (MS-MLPA) study revealed low-level mosaicism for AS.

conclusionA broader phenotypic spectrum should be considered for AS as patients with atypical presentations may otherwise elude diagnosis.

Indexed as

Angelman SyndromePrader-Willi SyndromeGenomic ImprintingHumansLanguageMaleMosaicismAngelman syndromecase reportexpressive languagemosaicismMS-MLPA

Identifiers

PMID35929060
PMCPMC9544204
OpenAlexW4289943467

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.