Evidence map›Paper›PMID 35365979›Full record

ArticleAmerican journal of medical genetics. Part A2022

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Marwan K Tayeh, Janean DeVaul, Kristin LeSueur, Chen Yang, Jirair K Bedoyan, Peedikayil Thomas, Mark C Hannibal, Jeffrey W Innis

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PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.3field-weighted citation impact, top 19% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

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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.

Marwan K TayehDepartment of Medical and Molecular Genetics, Division of Indiana, University Genetics Testing Laboratories, Indiana University, Indianapolis, Indiana, USA.ORCID 0000-0003-0024-6513
Janean DeVaulDepartment of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Kristin LeSueurDepartment of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Chen YangDepartment of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Jirair K BedoyanDepartment of Pediatrics, Division of Genetic and Genomic Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Peedikayil ThomasDepartment of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Mark C HannibalDepartment of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Jeffrey W InnisDepartment of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan, USA.ORCID 0000-0003-4335-1014
University of Michigan · USIndiana University – Purdue University Indianapolis · USUniversity of Pittsburgh · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multilocus imprinting disturbances (MLID) have been associated with up to 12% of patients with Beckwith-Wiedemann syndrome, Silver-Russell syndrome, and pseudohypoparathyroidism type 1B (PHP1B). Single-gene defects affecting components of the subcortical maternal complex (SCMC) have been reported in cases with multilocus hypomethylation defects. We present a patient with speech and language impairment with mild Angelman syndrome (AS) features who demonstrates maternal hypomethylation at 15q11.2 (SNRPN) as well as 11p15.5 (KCNQ1OT1) imprinted loci, but normal methylation at 6q24.2 (PLAGL1), 7p12.1 (GRB10), 7q32.2 (MEST), 11p15.5 (H19), 14q32.2 (MEG3), 19q13.43 (PEG3), and 20q13.32 (GNAS and GNAS-AS1). The proband also has no copy number nor sequence variants within the AS imprinting center or in UBE3A. Maternal targeted next generation sequencing did not identify any pathogenic variants in ZPF57, NLRP2, NLRP5, NLRP7, KHDC3L, PADI6, TLE6, OOEP, UHRF1 or ZAR1. The presence of very delayed, yet functional speech, behavioral difficulties, EEG abnormalities but without clinical seizures, and normocephaly are consistent with the 15q11.2 hypomethylation defect observed in this patient. To our knowledge, this is the first report of MLID in a patient with mild, likely mosaic, Angelman syndrome.

Indexed as

Angelman SyndromeBeckwith-Wiedemann SyndromeIntellectual DisabilityLanguage Development DisordersAdaptor Proteins, Signal TransducingCCAAT-Enhancer-Binding ProteinsChildDNA MethylationGenomic ImprintingHumansUbiquitin-Protein LigasesAdaptor Proteins, Signal TransducingCCAAT-Enhancer-Binding ProteinsNLRP7 protein, humanUbiquitin-Protein LigasesUHRF1 protein, humanmaternal hypomethylationmosaic Angelman syndromemultilocus imprinting disturbances

Identifiers

PMID35365979
PMCPMC9321834
OpenAlexW4226004909

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.