Evidence map›Paper›PMID 35218942›Full record

ArticleEuropean journal of medical genetics2022

Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.

Emma K Baker, Catherine F Merton, Wen-Hann Tan, Tracy Dudding-Byth, David E Godler, Anjali Sadhwani

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Imprinting disorders.Nature reviews. Disease primers · 2023
    Review
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

6 authors.

Emma K BakerDiagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville, 3052, Australia; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, 3052, Australia; School of Psychology and Public Health, La Trobe University, Melbourne, 3083, Australia.
Catherine F MertonDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Wen-Hann TanDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Tracy Dudding-BythThe University of Newcastle, Newcastle, NSW, Australia.
David E GodlerDiagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville, 3052, Australia; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, 3052, Australia. Electronic address: david.godler@mcri.edu.au.
Anjali SadhwaniDepartment of Psychiatry, Boston Children's Hospital, Boston, MA, USA. Electronic address: Anjali.Sadhwani@childrens.harvard.edu.

Funding

A Prospective Natural History Study of Angelman Syndrome: A Fresh Approach to a 10-year Longitudinal Study to Facilitate Development of Novel Therapeutic ProductsR01FD006003 · FDA · BOSTON CHILDREN'S HOSPITAL · PI TAN, WEN-HANN · 2017 to 2017
$2.0M
FDA HHS R01 FD006003
6 · The paper itself

Abstract

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by loss of expression of the maternally-inherited UBE3A on chromosome 15q11.2. In AS due to a chromosomal deletion that encompasses UBE3A, paternal uniparental disomy of chromosome 15, or imprinting defects (ImpD), the SNRPN locus is unmethylated, while in neurotypical individuals, it is ∼50% methylated. We present the developmental profile of two adults with mild AS assessed using standardized behavioral and neurodevelopmental measures. Both had intellectual disability with unusually advanced verbal communication skills compared to other individuals with AS. Methylation of the SNRPN locus was examined using Methylation Specific Quantitative Melt Analysis (MS-QMA) in different tissues at one time point for participant A (22 years) and two time points for participant B (T1: 22 years, T2: 25 years), and these levels were compared to a typical AS cohort. While participant A showed methylation levels comparable to the typical AS cohort, participant B showed methylation mosaicism in all tissues at both time points and changes in methylation levels from T1 to T2. AS should be considered in individuals with intellectual disability and verbal speech who may not have the typical symptoms of AS.

Indexed as

Angelman SyndromeAdultChromosomes, Human, Pair 15DNA MethylationGenomic ImprintingHumansMosaicismsnRNP Core ProteinsUniparental DisomysnRNP Core ProteinsAtypical Angelman syndromeDevelopmental disabilitiesImprinting defectIntellectual disabilitiesMosaicism

Identifiers

PMID35218942
PMCPMC9800002

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